Indian Journal of Human Genetics
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CASE REPORT
Year : 2012  |  Volume : 18  |  Issue : 1  |  Page : 127-129

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


Department of Fetal Medicine, Lifeline Genetics and Research Centre, Lifeline Super Specialty Hospital, Adoor, Pathanamthitta, Kerala, India

Correspondence Address:
Sreelata Nair
Department of Fetal Medicine, Lifeline Genetics and Research Centre, Lifeline Super specialty Hospital, Adoor, Pathanmthitta, Kerala - 691 523
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-6866.96682

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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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