PMID- 16954675
OWN - NLM
STAT- MEDLINE
DCOM- 20060918
LR  - 20220331
IS  - 1424-859X (Electronic)
IS  - 1424-8581 (Linking)
VI  - 114
IP  - 3-4
DP  - 2006
TI  - Supernumerary marker chromosome 5 diagnosed by M-FISH in a child with congenital 
      heart defect and unusual face.
PG  - 330-7
AB  - We describe a female patient with a small supernumerary marker chromosome (sSMC) 
      present in mosaic and characterized in detail by fluorescence in situ 
      hybridization (FISH) using all 24 human whole chromosome painting probes, 
      multicolor banding (MCB) and subcentromere specific multicolor FISH 
      (subcenM-FISH). The sSMC was demonstrated to be derived from chromosome 5 and the 
      karyotype of our patient was as follows: 47,XX,+mar.ish r(5)(::p13.2 
      approximately p13.3-->q11.2::) [60%]/46,XX [40%]. Partial trisomy for the 
      proximal 5p and q chromosomal regions is a rare event. A critical region exists 
      at 5p13 for the phenotype associated with duplication 5p. As far as we know, 
      eight similar cases have been published up to now. We describe a new case which, 
      to our knowledge, is the first characterized in such detail. The role of 
      uniparental disomy (UPD) in cases of SMC is also discussed.
CI  - Copyright 2006 S. Karger AG, Basel.
FAU - Sarri, C
AU  - Sarri C
AD  - Genetics Department, Institute of Child Health, Aghia Sophia Children's Hospital, 
      Athens, Greece. inchildh@otenet.gr
FAU - Gyftodimou, Y
AU  - Gyftodimou Y
FAU - Grigoriadou, M
AU  - Grigoriadou M
FAU - Pandelia, E
AU  - Pandelia E
FAU - Kalogirou, S
AU  - Kalogirou S
FAU - Kokotas, H
AU  - Kokotas H
FAU - Mrasek, K
AU  - Mrasek K
FAU - Weise, A
AU  - Weise A
FAU - Petersen, M B
AU  - Petersen MB
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Switzerland
TA  - Cytogenet Genome Res
JT  - Cytogenetic and genome research
JID - 101142708
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Abnormalities, Multiple/genetics
MH  - Child
MH  - *Chromosome Aberrations
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 6
MH  - Craniofacial Abnormalities/*genetics
MH  - Female
MH  - Genetic Markers
MH  - Heart Defects, Congenital/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
EDAT- 2006/09/07 09:00
MHDA- 2006/09/19 09:00
CRDT- 2006/09/07 09:00
PHST- 2005/12/29 00:00 [received]
PHST- 2006/01/16 00:00 [accepted]
PHST- 2006/09/07 09:00 [pubmed]
PHST- 2006/09/19 09:00 [medline]
PHST- 2006/09/07 09:00 [entrez]
AID - 94222 [pii]
AID - 10.1159/000094222 [doi]
PST - ppublish
SO  - Cytogenet Genome Res. 2006;114(3-4):330-7. doi: 10.1159/000094222.