Association of 22q11.2 deletion in children with congenital heart defects from Andhra Pradesh, India
Journal Title: Indian Journal of Research in Pharmacy and Biotechnology - Year 2014, Vol 2, Issue 4
Abstract
DiGeorge syndrome is a genetic disorder associated with chromosome 22q11.2 deletion and manifests with variable clinical findings. Most of the cases occur sporadically although vertical transmission has been documented. Children with microdeletion 22q11.2 and CHD are at high risk for mortality and morbidity. In this report we studied two unrelated male children with clinical features consistent with 22q11.2 microdeletion syndrome characterized by cardiac defect, facial dysmorphism and developmental deficiency. One of the cases also had trigonocephaly. Metaphase fluorescence in situ hybridization (FISH) analysis using TUPLE1 probes showed deletion of the 22q11.2 region in the patients, confirming the diagnosis of DiGeorge syndrome.
Authors and Affiliations
Syed Sunayana Begum, A. Venkateshwari, A. Srilekha, M. Sujatha, A. Jyothy and Mundluru Hema Prasad
Keywords
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