20
Nov
10p15.3 microdeletion syndrome
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10p15.3 microdeletion syndrome is a rare condition with only 26 reported cases in the literature prior to the authors’ work. Abnormal facial features, global developmental delay (DD), intellectual disability (ID), short stature, hand and foot deformities, and congenital heart defects (CHDs) are all characteristics of the condition. The condition can... Read More
29
Jun
Cardiac evaluation of patients with 22q11.2 duplication syndrome
Cardiac symptoms in patients with 22q11.2 duplication syndrome. Patients with isolated duplications of 22q11.2 segment show a very wide spectrum of manifestations from severely affected to practically asymptomatic persons. Some patients with duplications of 22q11.2 may have congenital heart defects (CHD). However, the spectrum and severity of CHD in dup... Read More
30
Aug
6q25.1 microdeletion, the TAB2 gene plays a key role in congenital heart defects
American Journal of Medical Genetics March 2017 Congenital heart defects (CHD) affect approximately 1.35 million infants each year. New technologies have revealed more genetic causes for CHD; one gene of interest is TAB2 (Full name: TGF-beta activated kinase 1/MAP3K7 binding protein 2) which, as the study finds, causes structural valve... Read More
