FISH
SMALL SUPERNUMERARY MARKER CHROMOSOMES- sSMC 14 -
|
| Cases without clinical findings |
81 |
Cases with clinical findings |
26 |
symptoms |
| Cases with unclear clinical correlation |
Cases with neocentromeres |
1 |
tumor 0 |
|
In general 70% of sSMC carriers are clinically normal. The figures here
are based on the bias, that mainly clinically aberrant cases are reported in literature!
UPD (uniparental disomy) cases: UPD 14 maternal paternal unclear
the probably non-dosage sensitive pericentric region of chromosome 14
SCHEMATIC CYTOGENETIC DEPICTION
DISCLAIMER
SCHEMATIC MOLECULARGENETIC DEPICTION
acc. to UCSC Genome Browser on Human Mar. 2006 assembly [UCSC hg18, 2006]
and available BAC-data/ array-data from cases marked *** mentioned below [MB]
[p-tel --- centromere 19.10] uncritical region 20.24 --- 20.17 critical region
Below adapted for UCSC hg19, 2009
[p-tel --- centromere 19.10] uncritical region 20.24 --- 20.97 critical region
Clinical symptoms of centromere-near proximal imbalances
|
chromosomal region |
14q - proximal |
|
symptoms |
|
|
developmental delay |
17 % |
|
dysmorphic face |
67 % |
|
finger or toe/foot malformations |
17 % |
|
genital abnormalities |
17 % |
|
growth retardation |
33 % |
|
hearing problems/ loss |
17 % |
|
heart defect |
17 % |
|
hip problems |
17 % |
|
hypotonia |
17 % |
|
mental retardation |
50 % |
|
microcephaly |
17 % |
|
scoliosis |
17 % |
|
vision impaired |
17 % |
| number of cases (marked with “°” below) | 6 |
Cases without clinical findings (O)
| case no. | gender/ age at diagnosis | studied material |
de novo/ inherited |
GTG-banding result grade of mosaicism |
final result of the sSMC | test methods |
clinical symptoms | reference | ||
| 14-O- q1?0/ 1-1 |
male/ 1m |
PBL | maternal | 47,XY,+mar[19]/ 46,XY[81] |
min(14)(pter→q1?0)* | all available centromeric probes | normal at age of 11y | {9} case 28239 | ||
| 14-O- q1?0/ 1-2 |
male/ 1m |
PBL | de novo | 47,XY,+mar[~50%]/ 46,XY[~50%] |
min(14)(pter→q1?0)* | all available centromeric probes | normal at age of 6y | {9} case 41934 | ||
| 14-O- q10/ 1-1 |
male/ prenatal |
AF | de novo | 47,XY,+mar[10] | inv dup(14)(q10) | cenM; subcenM | see below | {1} case 20 | ||
| Amniocentesis due to advanced maternal age; no ultrasound abnormalities; child born without clinical symptoms | ||||||||||
| 14-O- q10/ 1-2 |
male/ 27y |
PBL | de novo | 47,XY,+mar[15] | inv dup(14)(q10) | acro-cenM; subcenM | detected during ICSI course; no clinical symptoms | {31} case 14-42 {45} case 25 |
||
| 14-O- q10/ 1-3 |
male/ 28y |
PBL | n.a. | 47,XY,+mar[15] | inv dup(14)(q10) | acro-cenM; subcenM | detected during ICSI course; no clinical symptoms apart from OAT 3. Grade | {31} case 14-43 {45} case 26 |
||
| 14-O- q10/ 1-4 |
male/ 34y |
PBL | n.a. | 47,XY,+mar[15] | inv dup(14)(q10) | acro-cenM | detected during ICSI course; no clinical symptoms apart from OAT syndrome | {31} case 14-44 {45} case 27 |
||
| 14-O- q10/ 1-5 |
male/ 38y |
PBL | n.a. | 47,XY,+mar[15] | inv dup(14)(q10) | acro-cenM | see below | {31} case 14-45 | ||
| detected due to prenatal diagnosis of child of female partner; no clinical symptoms in 38 year old male | ||||||||||
| 14-O- q10/ 1-6 |
female/ 1m |
PBL | maternal | 47,XX,+mar[100%] | inv dup(14)(q10)* | all available centromeric probes | normal at age of 21y | {9} case 40 | ||
| 14-O- q10/ 1-7 |
male/ prenatal |
AF | de novo | 47,XY,+mar[17]/ 46,XY[3] |
inv dup(14)(q10)* | all available acrocentric centromeric probes | normal at age of 9 y | {9} case 32830 | ||
| 14-O- q10/ 1-8 |
male/ 1m |
PBL | paternal | 47,XY,+mar[100%] | inv dup(14)(q10)* | all available centromeric probes | normal pregnancy up to week 24; then preterm spontaneous birth with postnatal complications; normal at age of 9m | {10} case 1 | ||
| 14-O- q10/ 1-9 to 1-12 |
female/ prenatal |
AF | paternal/ maternal/ de novo/ n.a. |
47,XX,+mar[100%] 2x [30%] 1x ({12}case6) [20%] 1x ({12}case7) |
inv dup(14)(q10)* | all available centromeric probes | Amniocentesis due to advanced maternal age; no ultrasoundabnormalities; child born without clinical symptoms | {12} cases 4-7 | ||
| 14-O- q10/ 1-13 |
male/ 26y |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(14)(q10)* | centromeric probes | normal but infertility in partnership; severe oligoasthenospermia | {18} case 1 {45} case 28 |
||
| 14-O- q10/ 1-14 |
male/ adult |
PBL | n.a. | 47,XY,+mar[15] | inv dup(14)(q10) | cenM; subcenM |
normal but fertility-problems in partnership | {31} case 14-414 {45} case 29 |
||
| 14-O- q10/ 1-15 |
female/ adult |
PBL | n.a. | 47,XX,+mar[15] | inv dup(14)(q10) | cenM; subcenM |
normal; daughter with sSMC and abnormalities of unclear origin; no UPD 14 | {31} case 14-415 | ||
| 14-O- q10/ 1-16 |
female/ 38y |
PBL | n.a. | 47,XX,+mar[100%] | inv dup(14)(q10) | centromeric probes; subcenM |
normal; daughter with same marker in 100% of the cells and dwarfism; suspicion of Turner syndrome | {31} case 14-416 | ||
| 14-O- q10/ 2-1 |
see 13/21-O-q10/4-1 | {14} case 26 {45} case 107 |
||||||||
| 14-O- q11/ 1-1 |
male/ prenatal |
AF | maternal (age 34y) |
47,XY,+mar[15] | inv dup(14)(q11) | acro-cenM; UPD-test | Amniocentesis due to psychological indication age; no ultrasound abnormalities; child born without clinical symptoms; mother normal | {3} case 3 | ||
| 14-O- q11/ 1-2 |
female/ 28y |
PBL | n.a. | 47,XX,+mar[50%]/ 46,XX[50%] |
inv dup(14)(q11) | acro-cenM; subcenM |
normalfemale | {31} case 14-6 | ||
| 14-O- q11/ 2-1 |
female/ 18y |
PBL | n.a. | 47,XX,+mar[100] | min(14)(:p11→q11:) | cep probes | studied due to a son with karyotype 47,XY,rob(13;21)(q10;q10),+21,+mar* | {64} mother of index case | ||
| 14-O- q11.1/ 1-1 |
female/ 37y |
PBL | n.a. | 47,XX,+mar[43]/ 46,XX[7] |
inv dup(14)(q11.1) | acro-cenM; subcenM; UPD-test | detected during ICSI course; no clinical symptoms | {31} case 14-7 {45} case 30 |
||
| 14-O- q11.1/ 1-2 |
female/ 38y |
PBL | n.a. | 47,XX,+mar[100%] | inv dup(14)(q11.1) | acro-cenM | Fertility problems; no other clinical symptoms | {31} case 14-8 {45} case 31 |
||
| 14-O- q11.1/ 1-3 |
male/ 36y |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(14)(q11.1) | cenM; subcenM | Fertility problems; OAT-syndrome; no other clinical symptoms | {45} case 32 | ||
| 14-O- q11.1/ 1-4 |
male/ prenatal |
AF | de novo | 47,XY,+mar[100%] | inv dup(14)(q11.1) | centromeric probes; subcenM; UPD-test | detected due to advanced maternal age; baby normal in ultrasound, born normal with 3210 g, APGAR 8/9 | {0} provided by UNIQUE | ||
| 14-O- q11.1/ 1-5 |
male/ prenatal |
AF | ? de novo | 48,XXX,+mar[8]/ 47,XXX[44] |
inv dup(14)(q11.1) | acro-cenM, subcenM; UPD-test | Advanced maternal age; child born and normal | {0} provided by Dr. Mazauric, Düsseldorf, Germany | ||
| 14-O- q11.1/ 1-6 |
male/ 39y |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(14)(q11.1) | acro-cenM, subcenM | ICSI patient; normal male | {0;45} case 33 | ||
| 14-O- q11.1/ 1-7 |
female/ 25y |
PBL | paternal | 47,XX,+mar[100%] | inv dup(14)(q11.1) | centromeric probes, subcenM | normal female; father normal as well | {0} provided by Dr. Pabst, Hannover, Germany | ||
| 14-O- q11.1/ 1-8 |
male/ adult |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(14)(q11.1) | cenM, subcenM | normal male; repeated abortions in his wife | {45} case 34 {47} case 8 |
||
| 14-O- q11.1/ 1-9 |
female/ 32y |
PBL | n.a. | 47,XX,+mar[100%] | inv dup(14)(q11.1) | acrocenM, subcenM | normal female; prenatally detected child with same marker - thus, cytogenetics done in mother as well | {0}provided by Hanne Tittelbach, Nürnberg, Germany | ||
| 14-O- q11.1/ 1-10 |
female/ 29y |
PBL (EKF- cellbank) |
n.a. | 47,XX,+mar[52%] 46,XX[48%] |
inv dup(14)(q11.1) | cenM, subcenM | normal female; repeated abortions | {39} case 6 {45} case 35 |
||
| 14-O- q11.1/ 1-11 |
male/ 45y |
PBL (EKF- cellbank) |
n.a. | 47,XY,+mar[100%] | inv dup(14)(q11.1) | cenM, subcenM | normal male; unfulfilled wish for children | {45} case 36 | ||
| 14-O- q11.1/ 1-12 |
female/ adult |
PBL | n.a. | 47,XX,+mar[100%] | inv dup(14)(q11.1) | acrocenM, subcenM | normal female | {47}case 9 | ||
| 14-O- q11.1/ 1-13 |
female/ adult |
PBL | n.a. | 47,XX,+mar[100%] | inv dup(14)(q11.1) | acrocenM, subcenM | normal female; mar detected as mar also present in unborn child. | {47}case 10 | ||
| 14-O- q11.1/ 1-14 |
female/ 27y |
PBL (EKF- cellbank) |
paternal | 47,XX,+mar[100%] | inv dup(14)(q11.1) | cep probes subcenM | normal female, father normal as well; sSMC detected due to abortus | {0} | ||
| 14-O- q11.1/ 1-15 |
male/ prenatal |
AF | maternal | 47,XY,+mar[100%] | inv dup(14)(q11.1) | cep probes subcenM | pregnancy outcome unknown; mother normal | {0}case provided by Dr. Fuchs, Hamburg, Germany | ||
| 14-O- q11.1/ 1-16 |
male/ adult |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(14)(q11.1) | cep probes subcenM | normal male with severe type of oligospermia | {0}case provided by Dr. Ma Sai (Vancouver, Canada) | ||
| 14-O- q11.1/ 1-17 |
male/ 35y |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(14)(q11.1) | cep probes subcenM | normal male, infertile | {0} provided by Jasen Anderson, Brisbane, Australia | ||
| 14-O- q11.1/ 1-18 |
female/ prenatal |
AF | de novo | 47,XX,+mar[100%] | inv dup(14)(q11.1) | cep probes subcenM; UPD-test | normal child born | {58} case 19 | ||
| 14-O- q11.1/ 1-19 |
female/ 63y |
PBL | n.a. | 47,XX,inv(19)(p13.3q13.1), +mar[100%] |
inv dup(14)(q11.1) | cenM; subcenM | normal female; reason for cytogenetic analysis unknown | {0} provided by Jasen Anderson, Brisbane, Australia | ||
| 14-O- q11.1/ 1-20 |
female/ prenatal |
AF | maternal | 47,XX,+mar[100%] | inv dup(14)(q11.1) | cenM; subcenM | mother normal female; normal child born | {0}provided by Dr. Engels, Bonn, Germany | ||
| 14-O- q11.1/ 1-21 |
male/ prenatal |
AF | de novo | 47,XY,+mar[100%] | inv dup(14)(q11.1) | cenM; subcenM; UPD-test | advanced maternal age, normal child born | {58} case 20 | ||
| 14-O- q11.1/ 1-22 |
male/ prenatal |
AF | de novo | 47,XY,+mar[96%] 46,XY[4%] |
inv dup(14)(q11.1) | cenM; subcenM; UPD-test | advanced maternal age, normal child born | {0}provided by Dr. Dufke, Tübingen, Germany | ||
| 14-O- q11.1/ 1-23 |
n.a./ prenatal |
AF/ PBL | de novo | 47,+mar[88%] in PBL 87% |
inv dup(14)(q11.1) | midi | twin pregnancy; mar only in one twin, normal child born | {49}case 1 | ||
| 14-O- q11.1/ 1-24 |
male/ prenatal |
AF | n.a. | 47,XY,+mar[100%] | inv dup(14)(q11.1) | cenM; subcenM; UPD-test | studied due to sonographic markers: white spot, pericardia effusion; also previous anti-sterility treatment; normal child born | {0}provided by Dr. Kistner, Schwerin, Germany | ||
| 14-O- q11.1/ 1-25 |
female/ prenatal |
AF | de novo | 47,XX,+mar[100%] | inv dup(14)(q11.1) | cenM; subcenM; UPD-test | advanced maternal age; normal child born, normal at 1 years of age | {56} | ||
| 14-O- q11.1/ 1-26 |
female/ prenatal |
AF | de novo | 47,XX,+mar[100%] | inv dup(14)(q11.1) | cenM; subcenM | advanced maternal age; normal child born, normal at 0.5 years of age | {0}provided by Dr. Henderson, Bloemfontein, South Africa | ||
| 14-O- q11.1/ 1-27 |
female/ 32y |
AF | n.a. | 47,XX,+mar[100%] | inv dup(14)(q11.1) | cenM; subcenM | normal female; reason for cytogenetics not known | {0}provided by Dr. Polityko Minsk, Belarus | ||
| 14-O- q11.1/ 1-28 |
male/ prenatal |
AF | maternal | 47,XY,+mar[100%] | inv dup(14)(q11.1) | cenM; subcenM; UPD-test | advanced maternal age, normal child born, mother normal | {58} case 21 | ||
| 14-O- q11.1/ 1-29 |
male/ 33y |
PBL (EKF- cellbank) |
n.a. | 47,XY,+mar[100%] | inv dup(14)(q11.1) | cenM; subcenM | normal male, fertility problems | {0} | ||
| 14-O- q11.1/ 1-30 |
female/ prenatal |
PBL | maternal | 47,XX,+mar[100%] | inv dup(14)(q11.1) | cenM; subcenM | prenatally detected by chance, mother normal | {0} provided by Dr. Behrend, Düsseldorf, Germany | ||
| 14-O- q11.1/ 1-31 |
female/ 36y |
PBL (EKF- cellbank) |
n.a. | 47,XX,+mar[7]/ 46,XX[23] |
inv dup(14)(q11.1) | cenM; subcenM | normal female, infertile | {0} provided by Dr. Morlot, Hannover, Germany | ||
| 14-O- q11.1/ 1-32 |
female/ 29y |
PBL | n.a. | 47,XX,+mar[100%] | inv dup(14)(q11.1) | cenM; subcenM | normal female, infertile | {0} provided by Dr. Duba, Linz., Austria | ||
| 14-O- q11.1/ 2-1 |
male/ prenatal |
CH; umbilical chord blood | de novo | CH: 47,XY,+mar[50%]/ 46,XY[50%] UBL: 48,XY,+marx2[2%]/ 47,XY+mar[12]/ 46,XY[3] |
inv dup(14)(q11.1)(x2) | centromeric probes, subcenM; UPD-test | Chorion biopsy due to advanced maternal age and enhanced nuchal translucency in early pregnancy; normal child born with weight 3920g and length 52cm; APGAR 8/9/9; | {0} provided by Dr. Wiedemann, Bern, Switzerland | ||
| 14-O- q11.1/ 2-2 |
female/ 40y |
PBL | n.a. | 48,XX,+2mar[100%] | inv dup(14)(q11.1)(x2) | cenM; subcenM | normal female, fertility problems | {45} case 37 | ||
| 14-O- q11.1/ 3-1 |
female/ 40y |
PBL | n.a. | 47,XX,+mar[15%]/ 46,XX[85%] |
r(14)(::p1?2→q11.1::) | cenM; subcenM; UPD-test | normal female born studied prenatally due to advanced maternal age | {0} provided by Dr. Apeshiotis, Braunschweig, Germany | ||
| 14-O- q11.1/ 4-1 |
female/ prenatal |
AF | de novo | 47,XX,+mar[100%] | min(14)(:p11.1→q11.1::) | cenM; subcenM | normal female born (normal at 6m) studied prenatally due to advanced maternal age | {0} provided by Dr. Lemmens, Aachen, Germany | ||
| 14-O- q11.1/ 4-2 |
male/ prenatal |
AF | n.a. | 47,XY,+mar[100%] | min(14)(pter→q11.1:) | ceps; subcenM | Amniocentesis due to advanced maternal age; normal child born; normal at 3 y | {0} provided by Dr. S. Mays, Oxford, UK | ||
| 14-O- q11.2/ 1-1 |
male/ prenatal |
AF; PBL | de novo | 47,XY,+mar[100%] | dic(14;15)(14pter→14q11.2: :15q11.1→15pter) |
cep 14/22; cep 15; cep 13/21 characterization of #14 by p-arm polymorphism analysis | Amniocentesis due to advanced maternal age; no ultrasound abnormalities; normal child born at term | {11} case 2 | ||
| 14-O- q11.2/ 2-1 |
male/ prenatal |
AF | n.a. | 47,XY+mar[15]/ 46,XY[10] |
dic(14)(:p11.1→q11.1: :p11.1→q11.2:) BAC RP11-324B11 in 14q11.2 present once (19.88MB) |
M-FISH subcenM-FISH |
Amniocentesis due to advanced maternal age; normal child born | {0} provided by Dr. U. Trautmann, Erlangen, Germany |
||
| 14-O- q11.2/ 3-1 |
female/ 29y |
PBL | n.a. | 47,XX,+mar[40]/ 46,XX[60] |
min(14)(pter→q11.2:) BAC RP11-324B11 in 14q11.2 present once (19.88MB) |
acrocenM subcenM-FISH |
normal female, fertility problems | {45} case 38 | ||
| 14-O- q11.2/ 4-1 |
male/ 32y |
PBL | n.a. | 47,XY,+mar[100%] | r(14)(::p11.2→q11.2::) | n.a. | normal male, fertility problems - oligospermia | {42} | ||
| *** 14-O- q11.2/ 5-1 *** |
male/ prenatal |
AF | maternal (in PBL sSMC 100%) |
47,XY,+mar[100%] | inv dup(14)(q11.2) BAC RP11-324B11 in 14q11.2 present twice (19.88MB) array: 18.45-20.24 |
acrocenM subcenM-; aCGH |
advanced maternal age; pregnancy outcome unknown but mother clinically normal | {0} provided by Dr. Cremer, Düsseldorf, Germany | ||
| 14-O- q11.2/ 5-2 |
male/ prenatal |
AF | maternal | 47,XY,+mar[100%] | inv dup(14)(q11.2) | MLPA | abnormal first trimester screening; mother normal | {59} case 10 | ||
O-cases with unclear/insufficient characterization of the sSMC itself (CO)
| case no. | gender/ age at diagnosis | studied material |
de novo/ inherited |
GTG-banding result grade of mosaicism |
final result of the sSMC | test methods |
clinical symptoms | reference | ||
| 14- CO-1 |
female/ prenatal |
AF | maternal | 47,XX,+mar[?] | mar(14) | different FISH probes (D14/22Z1; wcp14) | Amniocentesis due to advanced maternal age; child normal at birth | {6} case 10 {7} case 17 |
||
| 14- CO-2 |
female/ prenatal |
AF/PBL | de novo | 47,XX,+r[7]/ 46,XX[14] (in PBL after birth mar in 6/20 cells) |
r(14) | SKY; cep14/22 telomeric and sub-telomeric probe | Amniocentesis due to advanced maternal age; birth at term, no clinical signs at birth and at 6m; however infantile spasms at 6m, which could be treated | {15} | ||
| 14- CO-3 |
male/ postnatal, adult |
PBL | n.a. | 48,XY,+marx2[100%] | mar(14) | centromeric probes | child of normal person mentioned here with DMD studied cytogenetically; 47,XX,+mar was detected; two mar present in father | {20} case 12 | ||
| 14- CO-4 |
male/ 1y |
PBL cell line at ECACC DD0618 |
de novo | 47,XY,+mar[?]/ 46,XY[?] |
mar(14) | n.a.; UPD-test | clinically normal | {5} case 12 | ||
| 14- CO-5 |
female/ 32y |
PBL cell line at ECACC DD1233 |
maternal | 47,XX,+mar[57%]/ 46,XX[43%] |
mar(14) | n.a.; UPD-test | clinically normal; daughter with same marker | {5} case 14 | ||
| 14- CO-6 |
female/ prenatal |
AF | maternal | 47,XX,+mar[100%] | mar(14) | cep probes | clinically normal | {13} case17 | ||
| 14- CO-7 |
male/ prenatal |
AF | maternal | 47,XY,+mar[100%] | mar(14) | cep probes | clinically normal | {13} case 18 | ||
| 14- CO-8 |
male/ postnatal |
PBL | maternal | 47,XY,+mar[100%] | mar(14) | cep probes | mother and child clinically more or less normal | {13} case 18 | ||
| 14- CO-9 |
n.a./ postnatal |
PBL | n.a. | 47,+mar[100%] | mar(14) | cep probes | normal | {14} case 15 | ||
| 14- CO-10 |
female/ adult |
PBL | n.a. | 47,XX,+mar[100%] | mar(14) | cep probes | normal with poor reproductive history | {14} case 16 {45} case 40 |
||
| 14- CO-11 |
female/ adult |
PBL | de novo | 47,XX,+mar[100%] | mar(14) | cep probes | normal with primary amenorrhea | {20} case 10 {45} case 41 |
||
| 14- CO-12 |
male/ prenatal |
PBL | paternal | 47,XY,+mar[?]/ 46,XY[?] |
mar(14) | cep probes | normal father with 100% sSMC, child with sSMC abnormal | {20} father of case 14 | ||
| 14- CO-13 to 17 |
n.a./ prenatal |
AF | 2x maternal; 3x de novo | 47,+mar[?%] | inv dup(14) | n.a. | normal mother and/ or normal ultrasound | {57} 5 cases | ||
| 14- CO-18 |
female/ 30y |
PBL | n.a. | 47,XX,+mar[100%] | mar(14) | M-FISH; wcp 14 | normal female with fertility problems; one pregnancy (TOP) with congenital malformations; female herself with polycystic ovaries and irregular menstrual cycle | {0} provided by Dr. Hema Purandarey, Piramal Diagnostics, Center for Genetic Health Care, Mumbai with acknowledgement to Dr. Sonal R. Bakshi, Institute of Science, Nirma University, Ahmedabad | ||
Cases with clinical findings (W)
| case no. | gender/ age at diagnosis | studied material |
de novo/ inherited |
GTG-banding result grade of mosaicism |
final result of the sSMC | test methods |
clinical symptoms | reference | ||
| 14-W- q10/ 1-1 |
female/ prenatal |
AF | n.a. | 47,XX,+mar[95%]/ 46,XY[5%] |
inv dup(14)(q10) | midi, subcenM | see below | {0} provided by Dr. N. Rubtsov, Novosibirsk, Russian Federation | ||
|
upward slant of palpebral fissures, tall stature, asthenic type, arachnodactyly, hyperextension of ulnar, radius and interphalangeal joints, asymmetric thorax, pectus excavatum, scoliosis, additional chord of the left ventricle, prolapse of the mitral valve, tachycardia, nephroptosis, spontaneously aborted. |
||||||||||
| 14-W- q10/ 1-2 |
female/ prenatal |
AF | n.a. | 47,XX,+mar[%?] | inv dup(14)(q10) | midi, subcenM | see below | {0} provided by Dr. N. Rubtsov, Novosibirsk, Russian Federation | ||
|
Up-slanting palpebral fissures, prominent premaxillary, malocclusion, micrognathia/ retrognathia, high vaulted and narrow palate, hyperthelia, additional chord of the leftventricle, excessive pilosis, pollex hypermobility. Pregnancy was aborted. |
||||||||||
| 14-W- q11.1/ 1-1 |
female/ adult |
bone marrow | de novo acquired | case 1: 48,XX,+4,+18,-19,-21,-22,+3mar, t(3;10)(q11;q12),t(12;14)(q24;q11) case 2: 46,X,-X,-10,-12,+14,-17,+3mar,t(14;14)(q11;q32) |
n.a. | see below | {30} cases 2 and 4 | |||
|
hint on repeated involvement of the breakpoint 14q11 in cases with adult T-cell leukemia; involved is T-cell receptor gene |
||||||||||
| 14-W- q11.1/ 2-1 |
moved to 14-U-14 | {41} | ||||||||
| 14-W- q11.1/ 3-1 |
moved to 14-U-15 | {0} provided by Dr. A. Küchler, Essen, Germany | ||||||||
| 14-W- q11.1 ~11.2/ 1-1 |
moved to 14-U-16 | {35} case 3; {0} | ||||||||
| *** 14-W- q11.2/ 1-1 ° *** |
n.a./ postnatal |
PBL | n.a. | 47,+mar[100%] | min(14)(pter→q11.2:)* distal clone in 14q RP11-14J7 (20.17MB) |
array-CGH | see below | {38}case 7 | ||
|
dysmorphic features |
||||||||||
| 14-W- q11.2/ 2-1 ° |
male/ postnatal |
PBL | n.a. | 47,XY,+mar[100%] | r(14)(::p11.2→q11.2::) | CGH | hypogonadotopic Hypogonadism, moderate mental developmental delay, precocious puberty, small hands, scoliosis | {40} case 12 | ||
| 14-W- q11.2/ 2-2 ° |
male/ 16y |
PBL | n.a. | 47,XY,+mar[14]/ 46,XY[16] |
r(14)(::p11.?2→q11.2::) | cenM; subcenM | normal apart from dwarphism | {0} provided by J. Anderson, Brisbane, Australia | ||
| 14-W- q13.2/ 1-1 |
female/ 6y |
PBL | de novo | 47,XX,+mar[100%] sSMC derivative of maternal chromosome 14 |
inv dup(14)(q13.2) size 14.6 MB |
array-CGH | see below | {62} | ||
|
multiple malformations including bilateral cleft lip and palate, coloboma, craniosynostosis, severe mental retardation, seizures and gastrointestinal dysfunction. Also mitochondrial defect with reduced function of complex I and III of the respiratory chain. |
||||||||||
| 14-W- q13.3/ 1-1 |
male/ 8y |
PBL | de novo | 47,XY,+mar[90%]/ 46,XY[10%] |
r(14)(::p11?.1→q11.1: :q13.3-q21.1::)[96%]/ r(14;14)(::p11?.1 →q11.1: :q13.3-q21.1: :p11?.1→q11.1: :q13.3-q21.1::)[4%] |
different FISH-probes: telomeric probe; all centromeric probes; UPD-test | developmental delay; moderately retarded, hypotonia, speech delay, dribbling | {8} case 5 | ||
| 14-W- q13/ 1-1 |
male/ prenatal |
AF | de novo | 47,XY,+mar[100%] | inv dup(14)(q13) | different FISH-probes: wcp14, YACs as specified in {17} | see below | {17} | ||
|
Amniocentesis due to ultrasound abnormalities in week 18 and 23 (among others unilateral talipes); pregnancy terminated; autopsy revealed correct length and weight, but prominent nasal bridge, protuberant forehead, ears low set and posteriorly angulated, camptodactyly bilateral clinodactyly, shortening of talipes of left leg, brain with ventriculomegaly, possible delayed neuronal migration |
||||||||||
| 14-W- q13/ 1-2 |
male/ 1m |
PBL | de novo | 47,XY,+mar[16]/ 46,XY[47] at 2 years same rate of sSMC, at 7y 42% in PBL in buccal mucosa stable at ~20% |
inv dup(14)(q13.1) size 14.5 MB |
different FISH-probes: wcp14, BACs as specified in {28} | see below | {28; 63} | ||
|
The third boy of a healthy Turkish consanguineous couple was born at term after an uneventful pregnancy. Weight: 2,490 g (3rd centile), length 48 cm (10th centile), head circumference 34 cm (10th centile). Dysmorphism: craniofacial features like head asymmetry, high-arched eyebrows, epicanthal folds, broad and high nasal bridge, bulbous nasal tip, flared nostrils, protruding philtrum, thin lips, posteriorly rotated low-set ears, retrognathia, sparse hair, omphalocoele, abnormally widely placed nipples, bilateral coloboma of the iris. Left hand with a single palmar crease tracheomalacia→ stridor at age of 6 weeks. At age of 10 months marked psychomotor delay (DQ 30-50). And body measurements below the 3rd centile. |
||||||||||
| 14-W- q13/ 1-3 |
female/ prenatal |
AF | de novo | 47,XX,+mar[100%] | inv dup(14)(q13) | wcp14 | see below | {34} | ||
|
Amniocentesis due to advanced maternal age, a previous missed abortion and growth retardation with talipes varus at both feet in week 20. pregnancy terminated in week 22. Postmortem examination showed: prominent forehead, protruding philtrum, overlapping columella nasi, micrognathia and retrognathia, low-set and posteriorly rotated ears, bilateral talipes varus, camptodactyly, clinodactyly, large heavy maceration, high dilatation of first and second ventricles, bilobated lungs, visceral immaturity, generalized congestion after opening of cavities, below normal weight of 300g. placenta with micro calcifications, umbilical cord with only two vessels. |
||||||||||
| 14-W- q13/ 1-4 ° |
n.a./ few months |
PBL | de novo | 47,+mar[?%] | inv dup(14)(q13) | n.a. | see below | {29; summary in 36} | ||
|
died at age of 11 months, mental retardation, pre- and postnatal growth retardation; microcephaly, low set malformed ears, cleft palate, flat facies, down slanting palpebral fissures, camptodactyly, hearing problem, blind, cardiovascular anomalies |
||||||||||
| 14-W- q13/ 2-1 |
female/ prenatal |
AF | de novo | 47,XX,+mar[100%] | min(14)(:q13→q24.3:) | wcp 14, D14/22Z1 | see below | {0}studied by Genzyme, USA | ||
|
sSMC detected prenatally due to ultrasound abnormalities and infection in amnion water - due to broken amniowall; TOP at 23rd week of gestation; weight 419g, discoid placenta, ventricular septal defect, acute chorioamnionitis; head circumference 18cm, chest circumference 15.2 cm, abdominal circumference 12.8cm, length ~26cm. slightly low set right ear, hypoplastic thymus; data included here according to wish and permission of parents. |
||||||||||
| 14-W- q13/ 3-1 ° |
female/ newborn |
PBL | n.a. | 47,XX+mar[100%] | min(14)(pter→q13:) | cenM, subcenM | see below | {0}provided by Dr. Emel Ergul, Turkey | ||
|
as newborn right leg turned inwards, facial dysmorphism, hypotonia |
||||||||||
| 14-W- q13.3/ 1-1 ° |
male/ 17y |
PBL | de novo | 47,XY,inv(9)(p12q13),+mar[40%]/ 46,XY,inv(9)(p12q13)[60%] |
r(14)(::p12→q13.3::) | cenM, subcenM; UPD-test | see below | {0}provided by Thomas Martin, Homburg, Germany | ||
|
mental retardation and facial dysmorphism |
||||||||||
| 14-W- q21.2 1-1 |
n.a./ newborn |
PBL | de novo | 48,+mar1,+mar2[35%]/ 47,+mar1[65%] |
min(14)(pter→q21.1:)* min(14)(q11.2)* |
centromeric probes wcp 14 | see below | {36} | ||
|
normal pregnancy; born by cesarean section at 39+2 weeks; APGAR 3, 7, 8. birth weight 2165g head circumference 32,2 cm, small low-set ears cleft palate, apparently small eyes with coloboma bilaterally and short palpebral fissures; right pelvic kidney, slightly distended ventricles; feeding problems in first months due to aspiration problems; at 7m developmental delay of 3m; hypotonia, bilateral hearing loss, severe multifocal epilepsy; at 1 m patient died as consequence of multiple cyanotic incidents due to convulsion and aspiration. no autopsy |
||||||||||
| 14-W- q22 1-1 |
n.a./ prenatal |
chord blood | de novo | 47,+mar[100%] | min(14)(pter→q22:)* | centromeric probes wcp 14 | see below | {32} case 12 | ||
|
Amniocentesis due to abnormal ultrasound, and advanced maternal age; in US IUGR, polyhydramnion, corpus callosum agenesis, TOP - no further data available |
||||||||||
W-Cases with similar imbalances NOT caused by sSMC (W-IMB)
| case no. | gender/ age at diagnosis | studied material |
de novo/ inherited |
GTG-banding result and FISH result incl. grade of mosaicism | test methods |
clinical symptoms | reference | ||
| 14-W- IMB- q13/ 1-1 to 1-4 |
female and male/ postnatal |
PBL | maternal (balanced translocations) |
der(14)t(14;div. chrs.)(q13;div. breakpoints) | n.a. | see below | {51-54} reviewed in {50} |
||
| features in common: microcephaly, mental retardation, hypotelorism, strabismus, blepharophimosis, downturned corners of the mouth, small mandibles, low-set ears, short neck, sacral dimple | |||||||||
W-cases with unclear/insufficient characterization of the sSMC itself (CW)
| case no. | gender/ age at diagnosis | studied material |
de novo/ inherited |
GTG-banding result grade of mosaicism |
final result of the sSMC | test methods |
clinical symptoms | reference | ||
| 14- CW-1 |
female/ 7y |
PBL cell line at ECACC DD0922 |
de novo | 47,XX,+mar[13]/ 46,XX[87] acc to {33} in cell line karyotype 47,XX,+2[25%]/46,XX[75%] |
mar(14) | all available centromeric probes; UPD-test | see below | {5} case 13 {14} case 13 {33} case 19 |
||
|
mildly dysmorphic: frontal bossing, wide jaw, broad nasal bridge, slight down slating palpebral fissures, low anterior hairline, frontal cowlick, thick eyebrows, small ears, narrow palate; HC on 97th centile. Learning difficulties; analyzed due to suspicion of Noonan syndrome |
||||||||||
| 14- CW-2 |
moved to 14-U-13 | {35} case 7 | ||||||||
CW-cases without extensive details on the cases (CWw)
| case no. | clinical symptoms | reference | ||
| 14-CWw-1 to 14-CWw-3 | mentally retarded; min x1, inv dup x2 |
{14} cases 14;17-18 |
||
| 14-CWw-4 | abnormal phenotype; 1 min |
{48}1 case |
||
Cases with unclear clinical correlation (U)
| case no. | gender/ age at diagnosis | studied material |
de novo/ inherited |
GTG-banding result grade of mosaicism |
final result of the sSMC | test methods |
clinical symptoms | reference | ||
| 14- U-1 |
male/ prenatal |
AF | de novo | 47,XY,+mar[5]/ 46,XY[5] |
inv dup(14)(q11) | M-FISH; cenM | see below | {2} case 4 {4} case 4 |
||
| Amniocentesis due to advanced maternal age; white spot in left heart chamber, no further information available | ||||||||||
| 14- U-1a |
female/ prenatal |
AF | de novo | 47,XY,+mar[9]/ 46,XY[5] |
inv dup(14)(q11.1) | cenM; subcenM | see below | {2} case 1 {4} case 1 {0} |
||
| Amniocentesis due to advanced maternal age; white spot in left heart chamber, no further information available | ||||||||||
| 14- U-1b |
female/ prenatal |
AF | de novo (?) | 47,XX,t(9;14)(q22.1~q22.2;q21), +mar[100%] |
inv dup(14)(q11.1) | cenM; subcenM | Amniocentesis due to advanced maternal age; normal(?) child born | {0} provided by Dr. Wegner, Berlin, Germany | ||
| 14- U-1c |
n.a./ prenatal |
AF | n.a. | 47,XX,+mar[100%] | inv dup(14)(q11.1) | ceps; subcenM | Amniocentesis due to advanced maternal age; no further info available | {0} provided by Dr. Hörtnagel, Munich, Germany | ||
| 14- U-1d |
female/ prenatal |
AF | n.a. | 47,XX,+mar[28]/ 46,XX[34] |
inv dup(14)(q11.1) | cenM; subcenM; UPD-test | advanced maternal age? - no info available | {0} provided by Dr. Behrend, Düsseldorf, Germany | ||
| 14- U-1e |
male/ prenatal |
AF | n.a. | 47,XY,+mar[42]/ 46,XY[34] |
inv dup(14)(q11.1) | cenM; subcenM; UPD-test | advanced maternal age? - no info available | {0} provided by Dr. Tittelbach, Nürnberg, Germany | ||
| 14- U-1f |
male/ prenatal |
AF | n.a. | 47,XY,+mar[100%] | inv dup(14)(q11.1) | cenM; subcenM | no info available | {0} provided by Carme Fuster, Barcelona, Spain | ||
| 14- U-2 |
female/ 1y |
PBL | de novo | 47,XY,+mar[15] | min(14)(:p12→q11.1:) | M-FISH; cenM subcenM; UPD-test |
possible problems perinatally; dystrophy; length and weight at 1y < 3. Percentile plus microcephalus; the latter not present at birth; extreme feeding problems | {0} provided by Dr. C. Löffler, Chemnitz, Germany | ||
| 14- U-2a |
male/ postnatal |
PBL | n.a. | 47,XY,+mar[50%]/ 46,XY[50%] |
min(14)(:p12→q11.1:) | cep probes, subcenM | n.a. | {0} provided by Dr. Binkert, Düdingen, Switzerland | ||
| 14-U-2b | female/ 10y |
PBL | de novo | 46,X,+mar[100%] | min(14)(pter→q11.1:) | cenM; subcenM | Turner Syndrome, short stature, webbing of neck, cubitus valgus, shield chest | {60}case P-7 {61} |
||
| 14- U-2c |
male/ 1y |
PBL | n.a. | 47,XY,+mar[44]/ 46,XY[6] |
min(14)(pter→q11.1:) | cenM; subcenM | abnormal | {0} provided by Dr. Polityko, Minsk, Belarus | ||
| 14- U-2d |
moved to 14-O-q11.1/4-2 | |||||||||
| 14- U-2e |
male/ prenatal |
AF | n.a. | 47,XY,+mar[7]/ 46,XY[17] in interphase sSMC in 70% |
min(14)(p11.1→q11.1:) | cenM; subcenM | Amniocentesis due to advanced maternal age; no further info available | {0} provided by Dr. Hickmann, Düsseldorf, Germany | ||
| 14- U-3 |
male/ prenatal |
AF | de novo | 47,XY,+mar[50%]/ 46,XY[50%] |
min(14)(:p11.1→q11.1:)[7]/ inv dup(14(:p11.1→q11.1: :q11.1→p11.1:)[4] |
cenM; subcenM; UPD-test | Amniocentesis due to advanced maternal age; no further info available | {0} provided by Drs. Wegner, Stumm, Berlin, Germany | ||
| 14- U-4 |
n.a./ n.a. |
n.a. | n.a. | 47,+mar[?] | ?min(14) | n.a. | phenotype unknown | {19} case 25 {46} case 31 |
||
| 14- U-5 |
female/ 16y |
PBL | de novo | 48,XXX,+mar[100%] | min(14)(pter→q21) | CGH | see below | {26} | ||
| facial dysmorphism, high-pitched cry, severe developmental delay, developed an aggressive ovarian immature teratoma. | ||||||||||
| 14- U-6 |
male/ prenatal |
AF cell line at ECACC DD0357 |
de novo | 47,XY,+mar[60%]/ 46,XY[40%] |
mar(14) | all centromeric probes; UPD-test | pregnancy terminated; phenotype unknown | {5} case 11 {16} case 8 |
||
| 14- U-7 |
n.a./ n.a. |
n.a. | n.a. | 47,+mar[?%] | mar(14) | n.a. | n.a. | {37} 1 case | ||
| 14- U-8 to 10 |
2x female/ 1x male/ prenatal |
AF | de novo | 47,+mar[?%]/ 46[?%] |
mar(14) | cep probes | TOP, normal at autopsy | {20} cases 11, 13, 15 | ||
| 14- U-11 |
n.a./ prenatal |
AF | maternal t(3;14) |
47,+mar[?%] | der(14)t(3;14) | n.a. | TOP | {57}1 case | ||
| 14- U-12 |
female/ postnatal |
PBL | n.a. | 47,XX,+mar,16qh-[19]/ 46,XX,16qh-[1] |
der(14)t(5;14)(14pter→14q13: :5p13.3→5pter) |
cenM; subcenM; MCB | Psychomotor delay, coloboma, cleft palate, agenesis of corpus callosum, dysmorphic ears, abnormal external genitalia, microcephaly. | {0} provided by Dr. Iourov, Moscow, Russia | ||
| 14- U-13 |
male/ prenatal |
AF | de novo | 47,XY,+mar[100%] | mar(14) maternal UPD |
n.a.; UPD-test | Amniocentesis due to advanced maternal age; normal child born; weight 2910g, length 51cm, OFC 34cm; no further information available | {35} case 7 | ||
| 14- U-14 |
female/ 1y |
PBL | de novo | 47,XX,+mar[44]/ 46,XX[6] |
inv dup(14)(q11) paternal isoUPD 14 |
centromeric probes, subcenM; UPD-test | see below | {41} | ||
| Patient born after a pregnancy complicated by severe polyhydramnion. No invasive prenatal diagnostics was done. Delivery was by Caesarean because of fetal distress at 37 weeks gestation. Birth weight 2,500 g (10th centile), OFC 34.8 cm (50th centile), and APGAR scores were 5 and 6 at 1 and 5 min, respectively. At birth profoundly hypotonic with reduced respiratory effort and required positive pressure ventilation. On examination, thorax small and bell shaped. Chest X-ray demonstrated lung hypoplasia, a ‘coat hanger’ shape of the ribs and elongated clavicles. There was stippled premature ossification of the proximal humeral epiphyses. She had a marked scoliosis convex to the right. Palpebral fissures were short. There were contractures of the wrists with ulnar deviation bilaterally, second digit extensor contractures and swan neck deformity of third and fourth digits bilaterally. She had a prominent forehead with an elongated philtrum, a midline tubercle of the upper lip vermilion, and a broad flat nasal bridge with anteverted nares. She had an H-shaped pattern of creases under the lower lips reminiscent of the Freeman-Sheldon syndrome. Skull X-ray revealed a hypoplastic maxilla and mandible and a small anterior fossa. There was diastasis of the recti and significant hepatomegaly. She developed severe pulmonary hypertension with right heart enlargement and a large patent ductus on day 2 of life, required continuous positive airways pressure until day 43 and had supplemental oxygen therapy after discharge at a variable flow of 100-250 ml/min. She required nasogastric tube feeding due to a poor swallowing reflex and inadequate airway protection, and regular oropharyngeal suction was necessary. She developed recurrent episodes of pneumonia and died of respiratory failure secondary to a respiratory infection at age 5 months. Autopsy demonstrated architecturally and cytological normal skeletal muscle, skin, liver, and nerves. | ||||||||||
| 14- U-15 |
male/ 31y |
PBL | de novo | 47,XY,+mar[26]/ 46,XY[4] | min(14)(pter→q11.1:) maternal UPD 14 |
acrocenM, subcenM; UPD-test | male with short stature and adipositas | {0} provided by Dr. A. Küchler, Essen, Germany | ||
| 14- U-16 |
male/ prenatal |
AF and PBL | de novo | 47,XY,+mar[100%] | min(14)(pter→q11.1~q11.2:) maternal UPD 14 |
different FISH-probes: subcenM; UPD-test | see below | {35} case 3; {0} | ||
| Amniocentesis due to abnormal triple test; child born in week 29 - birth weight 950g (10.th centile), length 37 cm (25th centile), OFC 26.3 (25th centile), APGAR 7/7; hypotonia up to 18 months of age-developmental delay; no mental retardation; at 4y all values <3rd centile (height 85cm, weight 11.5 kg, OFC 47,5 cm); microcephaly, simian crease, developmental delay, small stature, hypotonic | ||||||||||
| 14- U-17 |
female/ prenatal |
AF | n.a. | 47,XX,+mar[100%] | der(14)t(14;16) (q12;q21) |
MLPA; BACs and cep | pes equinovarus bilateral, overlapping fingers, intrauterine growth retardation | {59} case 11 | ||
| 14- U-18 |
male/ 5y |
PBL | maternal t(14;17) |
47,XY,+mar[100%] | der(14)t(14;17)(q11.2;q25.3) | subcenM | body and facial dysmorphy, arachnoid cyst behind cerebellum, pineal gland cysts, psychomotor retardation, cafe au lait skin stains | {0} provided by Dr. Kowalska-Pawlak Poland | ||
| 14- U-19 |
male/ n.a. |
PBL/ EBV line | n.a. | 47,XY,+mar[27]/ 46,XY[3] |
mar(14)(pterq23.33) | array-CGH | n.a. | {65} | ||
| 14- U-20 |
female/ 12y |
PBL | n.a. | 47,XX,+mar[100%] | min(14)(pter→q11.1:) | acrocenM, subcenM | dwarphism; potentially mat UPD 14, test not wanted by parents | {0} provided by Dr. Mkrtchyan, Yerevan , Armenia | ||
| 14- U-21 |
female/ newborn |
PBL | de novo | 47,XX,+mar[8]/ 46,XX[18] |
r(14)(::p11.2→q12::)* aCGH: break in q12: 30.94MB maternal UPD 14; sSMC derived from paternal chromosome 14 |
SKY, array-CGH | West syndrome | {66} | ||
| 14- U-22 |
female/ 2y |
PBL | n.a. | 47,XX,+mar[100%] | inv dup(14)(q11.1) | acro cenM, subcenM | clinically abnromal | {0} provided by Dr. M. Mulhatino, Rio de Janeiro, Brazil | ||
| 14- U-23 |
male/ prenatal |
AF | mat | 47,XY,+mar[100%] | der(14)t(3;14)(p24.1;q21.1) | array-CGH | detected prenatally, TOP | {67} case 38 | ||
| 14- U-24 |
male/ 3y |
PBL | de novo | 47,XY,+mar[10%]/ 46,XY[90%] |
min(14)(pter→q11.2:) | acro cenM, subcenM | short stature, microcephaly, hypoplastic alae nasi, midface hypoplasia, cleft and lip palate, clubfeet | {0} provided by Dr. Reinaldo Luna, Brasil | ||
| 14- U-25 |
male/ 14y |
PBL | n.a. | 47,XY,+mar[17]/ 46,XY[3] |
inv dup(14)(q11.1) | acro cenM, subcenM | short stature, developmental delay, primary hypogonadism, congenital malformation of pancreas, secondary cardiomyopathy, bilateral myopia, retinal microangiopathy (bilateral), exophtalmos, facial dysmorphisms, abnormal dental development, prognathia, testicular hypoplasia. | {0} provided by Dr. Iourov, Moscow, Russia |
||
Cases with neocentromeres (N)
| case no. | gender/ age at diagnosis | studied material |
de novo/ inherited |
GTG-banding result grade of mosaicism |
final result of the sSMC | test methods |
clinical symptoms | reference | ||
| 14-N- qt32.1/ 1-1 |
female/ 1w |
PBL | de novo | 47,XX,del(14)(q32.1qter), +mar[100%] | inv dup(14)(qter→q32.1: q32.1→qter)* |
wcp 14 | see below | {21-24; 27; 43} | ||
| at birth (40 weeks of gestation): length 46.5cm; weight 2700g, OFC 34cm; facial deformities, hypertelorism, epicanthus, antimongoloid slant, deformed ears, broad base of nose, curly blond hair; marked hypertonia and jittering; subarachnoid hemorrhage over cerebral convexity; severe sleeping disorder developed during 1. year; delayed psychomotor development; at 5y normal muscle tone but marked mental deficit esp. in speech and concentration ability. | ||||||||||
N-Cases with similar imbalances NOT caused by sSMC (N-IMB)
| case no. | gender/ age at diagnosis | studied material |
de novo/ inherited |
GTG-banding result and FISH result incl. grade of mosaicism | test methods |
clinical symptoms | reference | ||
| 14-N- IMB- q23/ 1-1 |
1 case der(17)t(14;17) see also {55} |
{44} | |||||||