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Case Report

Molecular Delineation of Partial Trisomy 14q and Partial Trisomy 12p in a Patient with Dysmorphic Features, Heart Defect and Developmental Delay

Bose D.a · Krishnamurthy V.c · Venkatesh K.S.b · Aiyaz M.c · Shetty M.a · Rao S.N.c · Kutty A.V.M.a

Author affiliations

aDivision of Genomics, Department of Cell Biology and Molecular Genetics, Sri Devaraj Urs Academy of Higher Education and Research, and bDepartment of Pediatrics, R.L. Jalappa Hospital and Research Center, Kolar, and cGenotypic Technology Pvt. Ltd., Bangalore, India

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Cytogenet Genome Res 2015;145:14-18

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Article / Publication Details

First-Page Preview
Abstract of Case Report

Accepted: February 19, 2015
Published online: April 16, 2015
Issue release date: June 2015

Number of Print Pages: 5
Number of Figures: 2
Number of Tables: 1

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: http://www.karger.com/CGR

Abstract

This study describes a molecular analysis of partial trisomy 14q and partial trisomy 12p in a 5-year-old male child presenting with dysmorphic features, congenital heart disease and global developmental delay. Chromosomal analysis of the patient with GTG bands revealed a 47,XY,+der(14)t(12;14)(p13;q22)mat karyotype; the mother's karyotype was 46,XX,t(12;14)(p13;q22). Further, oligonucleotide array- CGH studies revealed an amplification of 32.3 Mb in the 14q11.1q22.1 region, substantiating partial trisomy 14q and additionally displaying an amplification of ∼1 Mb in the 12p13.3pter region for partial trisomy 12p. This is the first study to demonstrate a novel association of partial trisomies of 14q and 12p due to a 3:1 segregation of a maternal balanced translocation involving chromosomes 12 and 14. Gene ontology studies indicated 5 potential candidate genes in the amplified regions for the observed congenital anomalies.

© 2015 S. Karger AG, Basel


Article / Publication Details

First-Page Preview
Abstract of Case Report

Accepted: February 19, 2015
Published online: April 16, 2015
Issue release date: June 2015

Number of Print Pages: 5
Number of Figures: 2
Number of Tables: 1

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: http://www.karger.com/CGR


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