| Literature DB >> 20012787 |
Babu Rao Vundinti1, Seema Korgaonkar, Kanjaksha Ghosh.
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.Entities:
Mesh:
Year: 2009 PMID: 20012787 DOI: 10.1007/s12098-009-0243-6
Source DB: PubMed Journal: Indian J Pediatr ISSN: 0019-5456 Impact factor: 1.967