title: Familial small supernumerary marker chromosome (sSMC) (14)(:p11-q11:) [corrected] in a child with translocation Down syndrome.
abstract: We report a case of familial small supernumerary marker chromosome (sSMC)in a child with translocation Down syndrome (DS)and mother. The GTG-banded chromosomal analysis of DS child revealed 47,XY,+21,+mar and mother karyotype was 47,XX,+mar. The GTG-banded sSMC had a similar morphology of small acrocentric chromosomes. Fluorescence in situ hybridization (FISH)evaluation of sSMC using centromere probes(13/21,14/22,22)confirmed sSMC as derivative chromosome 14. The sSMC was not specifically stained with whole chromosome paint and arm-specific probes for chromosome 14;thus it has been described as der(14)(:p11-q11:).The phenotypic changes were not evident, may be due to trisomy condition in the child or the sSMC contain repetitive sequences.
authors.affiliation: Department of Cytogenetics, National Institute of Immunohematology (ICMR) K.E.M. Hospital Campus, Parel, Mumbai, 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: D000293:Adolescent; D002871:Chromosome Banding; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D004314:Down Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D014178:Translocation, Genetic / Q000235:genetics*; D014314:Trisomy / Q000235:genetics*