title: De novo origin of multiple small supernumerary marker chromosomes (sSMCs) in a child with intellectual disability and dysmorphic features.
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.
authors.affiliation: National Institute of Immunohaematology (ICMR), 13th floor, new multistoried building, K.E.M Hospital campus, Parel, Mumbai-400012, India. vbaburao@hotmail.com
authors.forename: Babu Rao
authors.initials: BR
authors.lastname: Vundinti
authors.forename: Seema
authors.initials: S
authors.lastname: Korgaonkar
authors.forename: Kanjaksha
authors.initials: K
authors.lastname: Ghosh
mesh_terms: D002648:Child; D002869:Chromosome Aberrations; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D019066:Facies; D005260:Female; D005819:Genetic Markers; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D032681:Spectral Karyotyping
chemical_list: D005819:Genetic Markers