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.
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An erratum to this article is available at http://dx.doi.org/10.1007/s12098-010-0004-6.
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Vundinti, B.R., Korgaonkar, S. & Ghosh, K. Familial small supernumerary marker chromosome (sSMC) (14)(:P11–q11:)In a child with translocation down syndrome. Indian J Pediatr 76, 1265–1267 (2009). https://doi.org/10.1007/s12098-009-0243-6
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DOI: https://doi.org/10.1007/s12098-009-0243-6