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Dysmorphic features and congenital heart disease in chromosome 6q deletion: A short report. 2012

Sreelata Nair, and Rini Varghese, and Sajeed Hashim, and Pappachan Scariah
Department of Fetal Medicine, Lifeline Genetics and Research Centre, Lifeline Super Specialty Hospital, Adoor, Pathanamthitta, Kerala, India.

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.

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