Article

De novo origin of multiple small supernumerary marker chromosomes (sSMCs) in a child with intellectual disability and dysmorphic features.

National Institute of Immunohaematology (ICMR), 13th floor, new multistoried building, K.E.M Hospital campus, Parel, Mumbai-400012, India.
Gene (impact factor: 2.34). 02/2012; 498(1):128-30. DOI:10.1016/j.gene.2012.01.066 pp.128-30
Source: PubMed

ABSTRACT 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.

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Keywords

chromosomal origin
 
chromosome 5
 
chromosomes
 
clinical effects
 
dysmorphic features
 
fluorescence
 
four sSMCs
 
heterogeneous group
 
intellectual disabilities
 
mental retardation
 
Multiple sSMCs
 
parental chromosomal analysis
 
remaining three sSMCs
 
situ hybridization
 
Small supernumerary marker chromosomes
 
spectral karyotyping
 
sSMCs