PMID- 22342255
OWN - NLM
STAT- MEDLINE
DCOM- 20120507
LR  - 20120313
IS  - 1879-0038 (Electronic)
IS  - 0378-1119 (Linking)
VI  - 498
IP  - 1
DP  - 2012 Apr 25
TI  - De novo origin of multiple small supernumerary marker chromosomes (sSMCs) in a 
      child with intellectual disability and dysmorphic features.
PG  - 128-30
LID - 10.1016/j.gene.2012.01.066 [doi]
AB  - Small supernumerary marker chromosomes (sSMCs) are a heterogeneous group with 
      regards to their clinical effects as well as their chromosomal origin and their 
      shape. The sSMCs are associated with mental retardation and dysmorphic features. 
      Multiple sSMCs are rarely reported. We report four sSMCs in a case of dysmorphic 
      features and intellectual disabilities. Among the four sSMCs, one sSMC confirmed 
      to be chromosome 5 derived sSMC using fluorescence in situ hybridization (FISH) 
      and spectral karyotyping (SKY). The sSMCs were de novo originated as parental 
      chromosomal analysis revealed normal karyotypes. The sSMC derived from chromosome 
      5 might be associated with mental retardation and dysmorphic features in the 
      present case. However the remaining three sSMCs might have originated from 
      repetitive sequences of chromosomes.
CI  - Copyright (c) 2012 Elsevier B.V. All rights reserved.
FAU - Vundinti, Babu Rao
AU  - Vundinti BR
AD  - National Institute of Immunohaematology (ICMR), 13th floor, new multistoried 
      building, K.E.M Hospital campus, Parel, Mumbai-400012, India. 
      vbaburao@hotmail.com
FAU - Korgaonkar, Seema
AU  - Korgaonkar S
FAU - Ghosh, Kanjaksha
AU  - Ghosh K
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20120209
PL  - Netherlands
TA  - Gene
JT  - Gene
JID - 7706761
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Child
MH  - *Chromosome Aberrations
MH  - Chromosomes, Human, Pair 5/*genetics
MH  - Facies
MH  - Female
MH  - Genetic Markers
MH  - Humans
MH  - Intellectual Disability/*genetics
MH  - Male
MH  - Pedigree
MH  - Spectral Karyotyping
EDAT- 2012/02/22 06:00
MHDA- 2012/05/09 06:00
CRDT- 2012/02/21 06:00
PHST- 2011/11/15 00:00 [received]
PHST- 2012/01/10 00:00 [revised]
PHST- 2012/01/26 00:00 [accepted]
PHST- 2012/02/21 06:00 [entrez]
PHST- 2012/02/22 06:00 [pubmed]
PHST- 2012/05/09 06:00 [medline]
AID - S0378-1119(12)00122-9 [pii]
AID - 10.1016/j.gene.2012.01.066 [doi]
PST - ppublish
SO  - Gene. 2012 Apr 25;498(1):128-30. doi: 10.1016/j.gene.2012.01.066. Epub 2012 Feb 
      9.