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Updated: May 24, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
De novo origin of multiple small supernumerary marker chromosomes (sSMCs) in a child with intellectual disability and
Babu Rao Vundinti1, Seema Korgaonkar, Kanjaksha Ghosh
1National Institute of Immunohaematology (ICMR), 13th floor, new multistoried building, K.E.M Hospital campus, Parel, Mumbai-400012, India. vbaburao@hotmail.com
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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