FISH
SMALL SUPERNUMERARY MARKER CHROMOSOMES- sSMC 2 -
|
| Cases without clinical findings |
22 |
Cases with clinical findings |
21 |
symptoms |
| Cases with unclear clinical correlation |
Cases with neocentromeres |
4 |
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 2 maternal paternal unclear
the probably non-dosage sensitive pericentric region of chromosome 2
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]
critical region 80.70 --- 89.60 uncritical region [91.00 centromere 95.70] uncritical region 101.58 --- 109.06 critical region
Below adapted for UCSC hg19, 2009
critical region 80.80 --- 89.20 uncritical region [90.50 centromere 96.80] uncritical region 102.22 --- 110.16 critical region
Clinical symptoms of centromere-near proximal imbalances
|
chromosomal region |
2p - proximal |
2q - proximal |
|
symptoms |
||
|
brain malformations |
0 % | 14 % |
|
developmental delay |
(67 %) | 43 % |
|
dysmorphic face |
(33 %) | 71 % |
|
finger or toe/foot malformations |
0 % | 14 % |
|
growth retardation |
(33 %) | 14 % |
|
heart defect |
(33 %) | 14 % |
|
hyperpigmentation |
(33 %) | 0 % |
|
hypotonia |
0 % | 14 % |
|
kidney problems/ malformations |
(33 %) | 0 % |
|
mental retardation |
(33 %) | 14 % |
|
situs inversus |
0 % | 14 % |
| number of cases (marked with “°” below) | 3 | 7 |
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 | ||
| 02-O- p12/ 1-1 |
see McCl-02-O-p12/1-1 | {0} {11} |
||||||||
| *** 02-O- p11.2/ 1-1 *** |
male/ 32y |
PBL | de novo | 47,XY,inv(9)(p11q13),+mar[53]/ 46,XY,inv(9)(p11q13)[47] |
min(2)(:p11.2→q11.1:)[15]/ min(2)(:p11.2→q11.1: :q11.1→p11.2:)[4]/ r(2)(::p11.2→q11.1::)[4]/ r(2)(::p11.2→q11.1: :p11.2→q11.1::)[11] FISH-data: RP11-316G9 (89.6MB) |
cenM subcenM no telomeric signals |
Healthy male; sSMC detected due to karyotype 47,XXX in unborn child | {0} provided by Dr. Küpferling, Cottbus, Germany |
||
| *** 02-O- p11.1/ 1-1 *** |
male/ 26y |
PBL (EKF- cellbank) |
de novo | 47,XY,+mar[22]/ 46,XY[20] |
r(2)(::p11.1→q12.1::) 91.01-101.58 MB array: r(2)(::p11.2→q12.1::) |
cenM subcenM no telomeric signals; array-CGH |
ICSI-patient; no clinical signs at age of 26, fertile | {0} {1} case 6 {41} case 4 |
||
| 02-O- p11.1/ 1-2 |
female/ prenatal |
AF |
n.a. | 45,X[5]/ 47,XX,+mar[43]/ 46,XX[2] |
r(2)(::p11.1→q11.2::) FISH-data: RP11-708D7: 95.0 MB |
cenM subcenM |
see below | {18} | ||
| ICSI-induced pregnancy; double bubble sign and singular umbilical cord artery; child born without clinical signs | ||||||||||
| 02-O- p11.1/ 2-1 |
male/ prenatal |
AF | n.a. | 47,XY,+mar [80%]/ 46,XY[20%] |
inv dup(2)(:p11.1→q11.1: :q11.1→p11.1:) |
cenM; subcenM | see below | {0} provided by Dr. Mazauric, Düsseldorf, Germany | ||
| Advanced maternal age; hand abnormality in previous pregnancy; ultrasound normal in week 15, child born normal | ||||||||||
| 02-O- p11.1/ 3-1 |
female/ 4y |
PBL | de novo | 47,XX,16qh+,+mar[58%]/ 46,XX,16qh+[42%] |
min(2)(:p11.1→q11.1:) | cenM; subcenM | Dwarphism - with high probability not in connection with sSMC | {0} provided by Dr. Wiezcorek, Essen, Germany | ||
| 02-O- p11.1/ 4-1 |
female/ adult |
PBL | n.a. | 47,XX,+mar[18]/ 46,XX[12] |
r(2)(::p11.1→q11.2::)[7]/ r(2;2)(::p11.1→q11.2: :p11.1→q11.2::)[2] FISH-data: RP11-708D7: 95.0 MB |
cenM subcenM |
Healthy female without clinical signs apart from fertility problems. | {41} case 5 | ||
| 02-O- p11.1/ 5-1 |
female/ 35y |
PBL (EKF- cellbank) |
n.a. | 47,XX,+mar[17]/ 46,XX[26] |
min(2)(:p11.1→q11.2:) FISH-data: RP11-708D7: 95.0 MB aCGH: 91.27-99.97 |
cenM subcenM; aCGH |
Healthy female without clinical signs apart from fertility problems (ICSI planned). | {0} provided by Dr. Mehnert, Neu-Ulm, Germany | ||
| 02-O- p11.1/ 5-2 |
female/ prenatal |
AF (EKF- cellbank) |
n.a. | 47,XX,+mar[15%]/ 46,XX[85%] |
min or r(2)(:p11.1→q11.2:) FISH-data: RP11-708D7: 95.0 MB |
cenM subcenM |
Advanced maternal age; healthy female child born; normal at 1 year | {0} provided by Dr. Morlot, Hannover, Germany | ||
| 02-O- p11.1/ 5-3 |
female/ 25y |
PBL | n.a. | 47,XX,+mar[13]/ 46,XX[17] |
min(2)(:p11.1→q11.2: FISH-data: RP11-708D7: 95.0 MB |
cenM subcenM |
healthy female, infertility | {0} provided by Dr. Junge, Dresden, Germany | ||
| 02-O- p11.1/ 6-1 |
male/ prenatal |
AF | n.a. | 47,XY,+mar[15%]/ 46,XY[85%] |
min(2)(:q11.2→p11: :p10→q11.2:) or min(2)(:q11→p11: :p11→q11.2:) FISH-data: RP11-708D7: 95.0 MB |
cenM subcenM |
Advanced maternal age; normal sonography. Healthy child born | {0} provided by Dr. Barbi, Ulm, Germany | ||
| 02-O- p11.1/ 7-1 |
male/ adult |
PBL | n.a. | 47,XY,+mar[17]/ 46,XY[8] in buccal mucosa sSMC in 202/300 cells |
mar(2)(:p11.1→q11.2:) array-data: 95.426.792-99.991.924 bp |
array-CGH | Studied due to repeated abortions in female partner. Healthy male. | {0} provided by Dr. Girard-Lemaire, Strasbourg, France | ||
| 02-O- p10/ 1-1 |
female/ prenatal |
AF chord blood |
de novo | 47,XX,+mar[17]/ 46,XX[77] (in chord blood 44% with sSMC) |
r(2)(::p10→q11.2::) FISH-data: RP11-708D7: 95.0 MB |
cenM subcenM |
see below | {7} | ||
| Amniocentesis due to advanced maternal age; growth delay during pregnancy, at birth and at 16m; all values always along the 10th centile: apart from that normal child. | ||||||||||
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 | ||
| 02- CO-1 |
male/ 30y |
PBL | de novo | 47,XY,+mar[100%] | r(2) | all centromeric probes | Healthy, 2 children. | {5} case 9 | ||
| 02- CO-2 |
female/ prenatal |
AF | de novo | 47,XX,+mar[15]/ 46,XX[55] in PBL sSMC in 50% |
mar(2) | all centromeric probes | Advanced maternal age; normal child born. Healthy at 2 years. | {20} case 1 | ||
| 02- CO-3 |
male/ prenatal |
AF | de novo | 47,XY,+mar[14]/ 46,XY[16] in PBL sSMC in 73% |
mar(2) | all centromeric probes | Advanced maternal age; normal child born. Healthy at 2 years. | {20} case 2 | ||
| 02- CO-4 |
female/ prenatal |
AF | maternal | 47,XX,+mar[18]/ 46,XX[12] |
mar(2) | all centromeric probes | No information on pregnancy - mother healthy. | {21} 1 case | ||
| 02- CO-5 |
n.a./ prenatal |
AF | de novo | 47,+mar[?%]/ 46[?%] |
r(2) | M-FISH, wcp2, cep 2 | abnormal maternal serum screening; normal in US and healthy child born. | {23} case 13 | ||
| 02- CO-6 |
female/ prenatal |
AF PBL |
de novo | 47,XX,+mar[15]/ 46,XX[55] in PBL sSMC in 50% of cells |
mar(2) | all cep probes | Advanced maternal age with positive serum screening. Healthy child born; normal at 2y | {25} case 1 | ||
| 02- CO-7 |
male/ prenatal |
AF PBL |
de novo | 47,XX,+mar[14]/ 46,XX[16] in PBL sSMC in 73% of cells |
mar(2) | all wcp probes | advanced maternal age; healthy child born; normal at 2y. | {25} case 2 | ||
| 02- CO-8 |
n.a./ prenatal |
AF | de novo | 47,+mar[?%] | r(2) | n.a. | normal sonography | {46} 1 case | ||
| 02- CO-9 |
n.a./ prenatal |
AF | de novo | 47,+mar[?%] | min(2) | n.a. | normal sonography | {46} 1 case | ||
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 | ||
| 02-W- p13/ 1-1 |
female/ prenatal |
AF | de novo | 47,XX,+mar[100%] | mar(2)(::p13→q12::) | FISH (not specified) | see below | {43} | ||
| Prenatally detected due to abnormal facies, single umbilical artery and diaphragmatic hernia. Child born but died 4 weeks after birth. | ||||||||||
| 02-W- p12/ 1-1 ° |
female/ 13y |
PBL | n.a. | 47,XX,+mar[70%]/ 46,XX[30%] |
min(2)(:p12→q11.2:) | cenM subcenM |
Behavioral problems, very mild mental retardation, hypermenorrhoe, hyperpigmentation colli. | {0} provided by Dana Kantarska, Slovakia | ||
| *** 02-W- p11.2/ 1-1 ° *** |
female/ 10y |
PBL | de novo | 47,XX,+mar[15] | r(2)(::p11.2→q11.1::) FISH-data: RP11-316G9 (89.7MB) on sSMC; RP11-303I4 (80.7MB) not on sSMC |
cenM MCB subcenM no telomeric signals; BACs |
BOR syndrome like symptoms (i.e. craniofacial dysmorphism and dysplasia of the kidney) | {0} {1} case 7 {2} case 11 {3} case 1 {4} case 13 |
||
| *** 02-W- p11.2/ 1-2 ° *** |
male/ 10y |
PBL | de novo | 47,XY,+mar[11]/ 46,XY[10] |
min(2)(:p11.2→q11.1:) FISH-data: RP11-303I4 (80.7MB); RP11-316G9 (89.7MB); RP11-271A22 = AC128677.4 (91.5MB) on sSMC |
cenM MCB subcenM no telomeric signals; BACs; UPD-test |
see below | {0} {27}case 2 |
||
| Pregnancy normal, delivery by Cesarean section, prolonged labor; birth w app. 2,500g after 34w of pregnancy. No major malformations (MRI-scan normal), good gross motor skills, good memory. Severe growth retardation, i.e. at 10y h: 118cm, w: 18kg; no effect of growth hormone NUTROPIN. Familial short stature present (mother 151cm; father 161cm, pat. grandmother: 147cm; sister of father 150cm; plus family history of diabetes). Severe DD for the speech (15 words in vocabulary). Treatment with RITALIN for 4 years for his ADHD patient. X ray of hand came back of bone age of 5y and 6y when he was 7y and 9y, respectively. Sitting at 9m, crawling at 11m, walking at 20m. At 15 puberty; i.e. facial hair develop and voice changed; still very small for age (weight ~45 pounds and 4 ft tall). Speech development: trying to repeat every word his parents say but still cannot complete a 3 word sentence; he can only write his name and address, but cannot read; physically very active. Good at computing. | ||||||||||
| 02-W- p11.2/ 2-1 |
male/ 18m |
PBL | de novo | 47,XY,+r[50%]/ 46,XY[50%] |
r(2)(::p11.2→q14.1::) | all available centromeric probes; midi | see below | {6} | ||
| At 18 m: DD, physical anomalies. Pregnancy unremarkable; delivery at 34 weeks of gestation. Birth w 2,800g, l: 50cm, HC: 32cm; feeding problems in early infancy; at age 12 m in association with a viral respiratory tract infection, seizures occurred, which continued following recovery from infection. sitting at 10 months, walked with support at 18 months, but no speech. W: 9.8 kg, l: 76 cm, HC: 45.5 cm- all below 10th centile; dolichocephaly, coarse hair, low-set ears, exophthalmoses, epicanthic folds, strabismus, depressed nasal bridge, high-arched palate, excess of skin on the neck, tapered fingers with mild clinodactyly, wide space between first and second toes, talipes varus on the right, muscular hypotonia + inguinal hernia. | ||||||||||
| 02-W- p11.1/ 1-1 ° |
female/ postnatal |
PBL | de novo | 47,XX,+mar[30]/ 46,XX[8] |
min(2)(:p11.1→q11.2~12.1:) | M-FISH, CGH, HR-CGH; subcenM |
see below | {0}provided by Carme Fuster, Barcelona, Spain | ||
| Born at 39 weeks, normal pregnancy. APGAR 8/9; birth w: 3,500 g. At 10 days cardiac defect seen and possible situs inversus. At that time w: 3.390 g, l: 49.5 cm, HC: 33.5 cm. Hypotonia with cranial necrotic scar of 1 cm2, blepharophimosis, low-set ears, micrognathia, club-foot. MRI: slight cerebral atrophy, augmented subarachnoid space + small cerebellar lessions probably secondary to a hemorrhagic process. Echocardiography: situs inverses + dextrocardia + moderate perimembranous VSD. Abdominal ultrasonography showed complete situs inversus and bilateral duplication of the renal collecting system. | ||||||||||
| 02-W- p11.1/ 1-2 ° |
n.a./ postnatal |
PBL | n.a. | 48,+marx2[25%]/ 47,+mar[47%]/ 46[28%] |
min(2)(:p11.1→q11.2:)* distal clone RP11-676J11 (99.9MB) |
cep and wcp probes, array-CGH | Developmental delay | {24} case 1 {42} case 9 |
||
| 02-W- p11.1/ 2-1 ° |
n.a./ postnatal |
PBL | de novo | 48,+marx2[50%]/ 47,+mar[41%]/ 46[9%] |
r(2)(::p11.1→q12.1::)* size ~9MB |
n.a.; subcenM with 3 BACs; array CGH | see below | {32} case 5 | ||
| Cleft palate; language learning delay; mild dysmorphic features; as of first grade, the patient was in special resource classes for reading, language, and math; normal renal ultrasound. | ||||||||||
| 02-W- p11.1/ 2-2 |
female/ 3d |
PBL cell line at ECACC CN0010 |
n.a. | 47,XX,+mar[100%] | inv dup(2)(:q11.2→p11.1: :p11.1→q11.2:) |
cenM subcenM |
Small omphalocoele but no dysmorphic features. | {22}case 4 | ||
| 02-W- p11.1/ 2-3 ° |
male/ 7y |
PBL | n.a. | 47,XY,+mar[8]/ 46,XY[22] |
r(2)(:p11.1→q11.2:) | cenM subcenM |
Multiple malformations. | {0}provided by Dr. A. Polityko, Minsk, Belarus | ||
| 02-W- p11.1/ 3-1 ° |
male/ 41y |
PBL | n.a. | 47,XY+mar[100%] | min(2)(:p11.1→q11.1:) | cenM; subcenM; UPD test |
Multiple clinical abnormalities including dysmorphic face, mental retardation. | {0} | ||
| *** 02-W- p11.1/ 4-1 ° *** |
male/ 9y |
PBL | de novo | 47,XY+mar[40%]/ 46,XY[60%] |
r(2)(::p11.1→q12.3: :p11.1→q12.3::) aCGH: 13.36MB gain |
cep and locus spec. probes; aCGH | short stature, microcephaly, facial dysmorphism, bilateral cleft lip and palate, cryptorchidism, developmental delay and autistiform behavior | {47} | ||
| 02-W- p10/ 1-1 |
male/ 6y |
PBL | maternal (r in 54% of PBL) |
47,XY,+r[80]/ 46,XY[100] |
r(2)(::p10→q12::) | different FISH probes + centromere near YACs {10}; UPD test |
see below | {10} | ||
|
Delivery in week 40 without complications; w: 3,020g, l: 49cm (both 25th centile); Later in infancy length and weight normal; at 6y psychotic illness + attention deficit, hyperactivity + stereotypic movements + mild MR microcephaly (<3rd centile), mild brachycephaly; long face, deep-set eyes, prominent nasal columella. |
||||||||||
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 | ||
| 02-W- IMB- q11.1/ 1-1 |
male/ 4y |
PBL | de novo | 46,XX,dup(2)(q11.1q13.2) | wcp 2 and YACs for #2 | cleft lip and cleft palate, multiple minor anomalies and developmental delay | {36; 44} | ||
| 02-W- IMB- q11.2/ 1-1 |
female/ 3.5y |
PBL | de novo | 46,XX,dup(2)(q11.2q14.2) | n.a. | see below | {34} | ||
|
Congenital glaucoma. rolled over at 4 months, sat unsupported at 12 months, walked at 16 months. At 38 months developmental levels were: gross motor 15 to 21 months, fine motor 15 to 21 months, social skills 27 to 33 months, and self-help skills 15 to 21 months. At 31 years of age, weight was 12 kg and her height was 89 cm (below the 5th centile). Skull was microcephalic (44.5 cm) and brachycephalic with depressed nasal bridge, nasal septum prominent and extended below the level of the nares; philtrum also prominent, mild clinodactyly but had no shortening of the fourth metacarpal bones. Her deep tendon reflexes were sluggish and muscle tone was decreased. She expressed no intelligible vocabulary. |
|||||||||
| 02-W- IMB- q11.2/ 2-1 |
female/ 7y |
PBL | de novo | 46,XX,dup(2)(q11.2q21) | wcp 2 and YACs for #2 | moderate learning disability, facial dysmorphism | {37} | ||
| 02-W- IMB- q11.2/ 3-1 |
female/ 37y |
PBL | maternal | 46,XX,der(8),ins(8;2)(p21.3;q21.1q11.2) | wcp 2 and 8 | mental retardation in mother and daughter | {38} | ||
| 02-W- IMB- q11.2/ 4-1 |
female/ prenatal |
AF | n.a. | 46,XX,trip(2)(q11.2q21) | wcp 2 | brain malformations, multicystic bladders, absence of right thumb, cleft palate | {40} | ||
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 | ||
| 02- CW-1 |
male/ 7.5y |
PBL | de novo | 47,XY,+r[30%]/ 46,XY[70%] |
r(2) | all available centromeric probes | see below | {8;9} case 26 | ||
| At birth weight 2.8kg, At 2.5y evaluated for autistic behavior; smiling at 4m, sitting at 8.5m, walking at 1y; no talking up to 2.5y; additionally hyperactive, ignoring people; behavioral problems | ||||||||||
| 02- CW-2 |
female/ 2y |
PBL | de novo | 47,XX,+mar[100%] | r(2)(q?) | SKY; pcp 2q | MR | {16} case 1 | ||
| 02- CW-3 |
female/ 15y |
PBL | de novo | 47,XX,+mar[?100%] | r(2) | FISH (not specified) | DD, minor dysmorphism (Narrow forehead, brachycephaly, synophris, prominent nasal bridge | {44} | ||
| 02- CW-4 |
n.a./ 1y |
PBL | n.a. | 47,XY,+mar[100%] | r(2) | SKY | DD | {48} case F0439968 | ||
| 02- CW-5 |
n.a./ 10y |
PBL | n.a. | 47,XX,+mar[100%] | min(2) | SKY | short stature, pituitary dwarfism | {48} case F0533491 | ||
| 02- CW-6 |
n.a./ 19m |
PBL | n.a. | 47,XY,+mar[100%] | min(2) | SKY | delayed milestones, multiple congential anomalies | {48} case F0549217 | ||
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 | ||
| 02- U-1 |
male/ prenatal |
n.a. | n.a. | 47,XY,+mar[mos] | mar(2) | SKY | Termination of pregnancy | {17} | ||
| 02- U-2 |
male/ prenatal |
AF | n.a. | 47,XY,+r [50%]/ 46,XY[50%] |
r(2)(::p11.1→q12~13::) | cenM; subcenM, MCB | Termination of pregnancy in week 22; no autopsy performed | {0} provided by Dr. Beudt, Frankfurt, Germany | ||
| 02- U-3 |
male/ n.a. |
n.a. | n.a. | 47,XY,+mar [42]/ 46,XY[58] |
inv dup(2)(:q11.2→p11.1: :p11.1→q11.2:) |
midi; subcenM | n.a. | {0} provided by Dr. N. Rubtsov, Novosibirsk, Russia | ||
| 02- U-4 |
male prenatal |
AF, fetal blood, CH | de novo | 47,XY,+mar [34]/ 46,XY[3] (AF) mosaic varies in AF, CH and blood between 0, 1.8, ~30, 40 and 92% of cells with sSMC |
r(2)(::p11.1→q12.3::) | FISH using different probes; subcenM- variant | Prenatal diagnosis due to advanced maternal age; termination of pregnancy; in autopsy no malformations observed | {29} | ||
| 02- U-5 |
n.a./ prenatal |
AF | de novo | 47,+mar [100%] | r(2)(::p11.1→q11.1::)* | n.a. | {32} case 6 | |||
| Normal ultrasound examination at ?18 weeks gestation (marker detected on amniocentesis for advanced maternal age) | ||||||||||
| 02- U-6 |
female/ prenatal |
AF | de novo | 47,XX,+mar[47]/ 46,XX[33] |
r(2)(::p11.2→q11.2::) aCGH: 96.12-99.12 |
cenM, subcenM; array-CGH |
reason for cytogenetics not known; TOP | {0}provided by Dr. A. Polityko, Minsk, Belarus | ||
| 02- U-7 |
male/ prenatal |
AF | n.a. | 47,XY,+mar[7]/ 46,XY[100] |
min(2)(:p11.1→q11.1:) | cenM, subcenM | TOP - no info available | {0}provided by Dr. C. Fuster, Spain | ||
| 02- U-8 |
female/ prenatal |
AF | n.a. | 47,XX,+mar[?%]/ 46,XX[?%] |
min(2) | SKY | advanced maternal age - no info available | {48}case F0425680 | ||
| 02- U-9 |
female/ prenatal |
AF | n.a. | 47,XX,+mar[10%]/ 46,XX[90%] |
min(2)(:p11.2→q11.1:) | cenM, subcenM | advanced maternal age - TOP | {0} provided by Dr. Ana Barreta, Porto, Portugal | ||
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 | ||
| 02- N-1 |
n.a./ prenatal |
AF | de novo | 47,+mar[12%]/ 46[88%] |
neo(2) | cep 2, wcp 2 | abnormal triple test; normal child at birth | {45} case 14 | ||
| 02- N-2 |
see 02-N-q35/1-1 | |||||||||
| 02-N- p21/ 1-1 |
see McCl-02-N-p21/1-1 | {12; 13; 14; 15; 19; 33} | ||||||||
| 02-N- q22/ 1-1 |
female/ 8y |
PBL | de novo | 47,XX,+mar[14]/ 46,XX[36] |
r(2)(::q35→q36::) | M-FISH; cenM-FISH, subcenM-FISH; MCB; UPD test | see below | {26}case RS {27} case 3 {30}case Neo #2-2; {33} |
||
|
dysmorphic features, multiple congenital malformations, psychomotor retardation |
||||||||||
| 02-N- q35/ 1-1 |
see McCl-02-N-q35/1-1 | {28} 1case | ||||||||