Chromosome 12p12.2p11.22 Deletion in a Patient with Ventricular Fibrillation, Mitral Valve Prolapse, Dilation of Aorta and Intellectual Disability: A Case Report
Interstitial deletion within chromosome 12p is a rare chromosome abnormality. Described clinical phenotypes include short stature, psychomotor delay, microcephaly, brachydactyly, and optic nerve hypoplasia. Here we report a 24-year-old female with 8050 kilobase deletion at 12p12.2p11.22, who has a history of sudden cardiac arrest secondary to cardiac arrhythmia. Cardiac features presented in our case have not been reported in 12p deletion patients.
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