PMID- 19729913
OWN - NLM
STAT- MEDLINE
DCOM- 20090917
LR  - 20090904
IS  - 1424-859X (Electronic)
IS  - 1424-8581 (Linking)
VI  - 125
IP  - 2
DP  - 2009
TI  - Molecular cytogenetic characterization of two cases with de novo small mosaic 
      supernumerary marker chromosomes derived from chromosome 16: towards a 
      genotype/phenotype correlation.
PG  - 109-14
LID - 10.1159/000227834 [doi]
AB  - Small supernumerary marker chromosomes (sSMC) derived from chromosome 16 are rare 
      and, so far, it is not yet clear which regions of chromosome 16 are critical and 
      have clinical consequences. We have characterized two cases with a ring-shaped 
      sSMC derived from chromosome 16. In case A the sSMC was encountered prenatally 
      and was characterized using centromeric fluorescence in situ hybridization (FISH) 
      probes, subcentromere-specific multicolor FISH (subcenM-FISH), reverse FISH and 
      array-CGH, using a full-tiling BAC array specific for chromosome 16. Case B is a 
      postnatal case and the sSMC was characterized by centromeric FISH probes and 
      subcenM-FISH. Our results, using molecular cytogenetics, showed that both sSMC 
      were derived from chromosome 16, resulting in a de novo mosaic partial trisomy of 
      chromosome 16, involving euchromatic material from 16q. Array painting, in case 
      A, allowed the localization of the sSMC breakpoints, revealing that the sSMC 
      comprised the 33.43-47.02 Mb region of chromosome 16 (16p11.2 to 16q12.1), a 
      region known to harbor some protein-coding genes. In general, the phenotypic 
      consequences of a de novo marker chromosome are difficult to assess. Molecular 
      cytogenetics techniques are a valuable tool for the accurate identification of 
      the origin and content of marker chromosomes, contributing to a more informed 
      prenatal counseling and patient follow-up. Besides multicolor FISH approaches, 
      array painting, combining microdissection and array-CGH, is very useful for 
      mapping size and breakpoints of marker chromosomes, since sSMC are often only 
      present in a small percentage of cells.
CI  - (c) 2009 S. Karger AG, Basel.
FAU - Melo, J B
AU  - Melo JB
AD  - Laboratorio de Citogenetica, Instituto de Biologia Medica e Centro de 
      Neurociencias e Biologia Celular, Faculdade de Medicina, Universidade de Coimbra, 
      Coimbra, Portugal.
FAU - Matoso, E
AU  - Matoso E
FAU - Polityko, A
AU  - Polityko A
FAU - Saraiva, J
AU  - Saraiva J
FAU - Backx, L
AU  - Backx L
FAU - Vermeesch, J R
AU  - Vermeesch JR
FAU - Kosyakova, N
AU  - Kosyakova N
FAU - Ewers, E
AU  - Ewers E
FAU - Liehr, T
AU  - Liehr T
FAU - Carreira, I M
AU  - Carreira IM
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20090831
PL  - Switzerland
TA  - Cytogenet Genome Res
JT  - Cytogenetic and genome research
JID - 101142708
RN  - 0 (Genetic Markers)
SB  - IM
MH  - *Chromosomes, Human, Pair 16
MH  - Comparative Genomic Hybridization
MH  - Genetic Markers
MH  - Genotype
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Male
MH  - *Mosaicism
MH  - *Phenotype
MH  - Trisomy
EDAT- 2009/09/05 06:00
MHDA- 2009/09/18 06:00
CRDT- 2009/09/05 06:00
PHST- 2009/02/27 00:00 [accepted]
PHST- 2009/09/05 06:00 [entrez]
PHST- 2009/09/05 06:00 [pubmed]
PHST- 2009/09/18 06:00 [medline]
AID - 000227834 [pii]
AID - 10.1159/000227834 [doi]
PST - ppublish
SO  - Cytogenet Genome Res. 2009;125(2):109-14. doi: 10.1159/000227834. Epub 2009 Aug 
      31.