FISH

SMALL SUPERNUMERARY MARKER CHROMOSOMES

-  sSMC -

HOW  TO  USE  THIS  PAGE

 

 

The start page is self explaining.

Problems might appear with the chromosome-specific pages, which are explained below.

 


 

The chromosome-specific pages are in general organized in the following way:

For each chromosome one sub-page has been created.

 Four types of sSMC cases are listed, each:

     

Cases without
clinical findings
n Cases with
clinical findings
n
symptoms
Cases with
unclear clinical correlation
Cases with
neocentromeres
n
tumor
n

n = number of corresponding cases collected here

This part is interactive - by clicking on one square one reaches the corresponding single cases

 


For each chromosome sub-pages for corresponding uniparental disomy cases has been created.

 

UPD (uniparental disomy) cases:           UPD  maternal          UPD  paternal

 

 


References

References of each sub-page are also provided separately

 


Cases are characterized according to the following parameters

 

                     
  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  
                     

 

 


The case numbers (case no.) are constructed as follows:

 

If all information is available for a case, it is numbered according to the sSMCs breakpoint in the short arm of the corresponding chromosome starting from pter (= end of the short arm - see example 1).
Exception: as all acrocentric chromosomes start always with the whole short arm for chrs. 13-15 and 21-22 the breakpoints in the long arm (q-arm) are relevant for case numbers; here the starting point is the centromere (q10 - see example 2).
In cases with neocentromeres the same system is applied - starting from p-arm. (see example 3)

 

chromosome -
information if sSMC-carrier was clinically normal (= O) or described with clinical signs (= W) - breakpoint (as described above)/
 variant number - case number with this variant

 

example 1: case 01-O-p12/1-1
is a clinically healthy carrier of an sSMC(1), with the breakpoint in 1p12; it is a variant called '1' (here: carrier of a minute shaped sSMC) and case 1 described

 

                     
  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  
  01-
O-p12/

1-1
female/
33y
PBL de novo 47,XX,+min[30%]/
46,XX[70%]
min(1)(:p11.2~12→q12:)  cep probes
subcenM
clinically normal woman; sSMC detected due to advanced maternal age in second pregnancy and first pregnancy with trisomy 18 {41} case 1-22  
                     

 

example 2: 15-O-q11/2-2

is a clinically healthy carrier of an sSMC(15) with the breakpoint in 15q11; it is a variant called '2' (carrier of  two inverted duplicated shaped sSMC), as another variant was already described with the same breakpoint, and case 2 described for this condition

 

                     
  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  
  15-
O-q11/
2-2
female/
40y
PBL paternal
father with one sSMC only
48,XX,+marx2[100%] 2x inv dup(15)(q11) centromeric probes normal apart from unclear sterility in partnership {150}   
                     

 

 

example 3: 14-N-qt32.1/1-1

is a clinically abnormal carrier of a neocentric sSMC(14) with the breakpoint in 14q32.1; it is a variant called '1', and case 1 described for this condition.

                     
  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}  

at birth (40 weeks of gestation): length 46.5cm; weight 2700g, OFC 34cm; facial deformities, hypertelorism, epicanthus, antimongolid 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.

                     

 

 

If not all relevant information for an sSMC carrier are available this enumeration system can not be applied:

  • when the sSMC is not characterized in detail, but the clinical outcome is known, the cases described in the literature are numbered consecutively (acc. to their inclusion in this data base) as 'CO'-cases (no clinical symptoms present in sSMC carrier) or 'CW-cases' (clinical symptoms present in sSMC-carrier)

 example 4: 01-CW-5

 is a carrier of a not in detailed characterized sSMC(1) = 01; he is not healthy = CW; it is the 5th case included in this page = 5 

 

                     
  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  
  01-
CW-5
male/
5y
PBL paternal ?
mar in 2/50 metaphases
47,XY,+mar[17]/
46,XY[3]
min(1) cenM clinically abnormal; suspicion of fra(X) syndrome, developmental delay {0}
provided by Dr. Mehnert (Neu-Ulm, Germany)
 
                     

 

 

  • when the sSMC is characterized in detail or not, and the clinical outcome is not known, the case is summarized under the 'U-cases' = cases with unclear clinical correlation of the sSMC. In this group also cases are summarized where apart from one specific sSMC a second sSMC or another chromosomal aberration is present; here also the influence of the sSMC on the clinical phenotype cannot be determined.

example 5a: 02-U-1

is a carrier of a not in detailed characterized sSMC(2) = 02; the pregnancy was terminated and no clinical information on the carrier with the sSMC is available = U;  it is the 1st such case included in this page = 1 

 

                     
  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}   
                     

 

Example 5b: 03-U-1

is a carrier of a not in detailed characterized sSMC(3) = 03; moreover a second not characterized sSMC is present; thus, it is not clear where the described clinical symptoms come from = U;  it is the 1st such case included in this page = 1 

 

                     
  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  
  03-
U-1
female/
1m
PBL de novo 48,XX,+mar1,+mar2x1-x5[22%]/
47,XX,+mar2x1-x5[78%]
mar1 = r(3)
mar2 =
unknown
(not tested werecep2, cep4, cep8, cep15)
FISH with all available centromeric probes delayed development, short stature and microcephaly at age of 7y. {6} case 2  
                     

 

 

Finally, in case of some special conditions additional abbreviations were introduced on the corresponding sub-pages
e.g. for derivative chromosome 22 syndrome = der(22): 22-Wder-189 = derivative sSMC derived from chromosome 22; with clinical symptoms and a der(22)-typical sSMC (Wder); case 189 included in this page

 


Abbreviations and FISH-methods used are specified here:

 

           
  Abbreviations  FISH-and other Methods  
  AF  amniocytic fluid cells  acro-cenM  acrocentric chromosome specific multicolor-FISH {1}  
  CH chorion biopsy cells array-CGH/ aCGH
array based comparative genomic hybridization {2}  
  DD developmental delay acro M  M-FISH for acrocentric chromosomes {3}  
  m months  cenM centromere specific multicolor FISH {4}  
  n.a. not available  cep centromeric probes  
  PBL  peripheral blood  CGH comparative genomic hybridization {5}  
  PL  placenta  MCB multicolor banding {6}  
  TOP termination of pregnancy M-FISH multiplex-FISH using whole chromosome painting probes {7}  
  w weeks midi subcentromere-specific multicolor-FISH {9}  
  y years subcenM spectral karyotyping using whole chromosome painting probes {10}  
  * karyotype interpretation
according to results in paper
SKY    
           

 

Method-References:

  1. Trifonov V, Seidel J, Starke H, Martina P, Beensen V, Ziegler M, Hartmann I, Heller A, Nietzel A, Claussen U, Liehr T.
    Enlarged chromosome 13 p-arm hiding a cryptic partial trisomy 6p22.2-pter.
    Prenat Diagn. 2003 May;23(5):427-430. 

  2. Vermeesch JR, Melotte C, Salden I, Riegel M, Trifnov V, Polityko A, Rumyantseva N, Naumchik I, Starke H, Matthijs G, Schinzel A, Fryns JP, Liehr T.
    Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype.
    Eur J Med Genet. 2005 Jul-Sep;48(3):319-327.

  3. Langer S, Fauth C, Rocchi M, Murken J, Speicher MR.
    AcroM fluorescent in situ hybridization analyses of marker chromosomes.
    Hum Genet. 2001 Aug;109(2):152-158.

  4. Nietzel A, Rocchi M, Starke H, Heller A, Fiedler W, Wlodarska I, Loncarevic IF, Beensen V, Claussen U, Liehr T.
    A new multicolor-FISH approach for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH).
    Hum Genet. 2001 Mar;108(3):199-204. 

  5. Liehr T, Heller A, Starke H, Rubtsov N, Trifonov V, Mrasek K, Weise A, Kuechler A, Claussen U.
    Microdissection based high resolution multicolor banding for all 24 human chromosomes.
    Int J Mol Med. 2002 Apr;9(4):335-339.

  6. Kallioniemi A, Kallioniemi OP, Sudar D, Rutovitz D, Gray JW, Waldman F, Pinkel D.
    Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors.
    Science. 1992 Oct 30;258(5083):818-821.

  7. Speicher MR, Gwyn Ballard S, Ward DC.
    Karyotyping human chromosomes by combinatorial multi-fluor FISH.
    Nat Genet. 1996 Apr;12(4):368-375.

  8. Senger G, Chudoba I, Friedrich U, Tommerup N, Claussen U, Brøndum-Nielsen K.
    Prenatal diagnosis of a half-cryptic translocation using chromosome microdissection.
    Prenat Diagn. 1997 Apr;17(4):369-374.

  9. Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, Volleth M, Albrecht B, Mitulla B, Trappe R, Bartels I, Adolph S, Dufke A, Singer S, Stumm M, Wegner RD, Seidel J, Schmidt A, Kuechler A, Schreyer I, Claussen U, von Eggeling F, Liehr T.
    Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification.
    Hum Genet. 2003 Dec;114(1):51-67.

  10. Schröck E, du Manoir S, Veldman T, Schoell B, Wienberg J, Ferguson-Smith MA, Ning Y, Ledbetter DH, Bar-Am I, Soenksen D, Garini Y, Ried T.
    Multicolor spectral karyotyping of human chromosomes.
    Science. 1996 Jul 26;273(5274):494-497.