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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866
EISSN: 0971-6866
Vol. 18, No. 1, 2012, pp. 127-129
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Bioline Code: hg12026
Full paper language: English
Document type: Case Report
Document available free of charge
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Indian Journal of Human Genetics, Vol. 18, No. 1, 2012, pp. 127-129
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Dysmorphic features and congenital heart disease in chromosome 6q deletion: A short report
Nair, Sreelata; Varghese, Rini; Hashim, Sajeed & Scariah, Pappachan
Abstract
In this report, we describe a one and a half year old girl showing terminal deletion of long arm of chromosome 6q. The associated abnormalities such as congenital heart disease, mental retardation, and dysmorphic features are described. Cytogenetic studies with GTG banding showed 46,XX,del(6)(q24→qter). Karyotype of the parents was normal suggesting a denovo event.
Keywords
Chromosome, deletion, dysmorphism, genetic counseling, karyotype
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© Copyright 2012 Indian Journal of Human Genetics.
Alternative site location: http://www.ijhg.com/
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