De novo 18q deletion with mitral valve insufficiency.
作者信息
Gunes S, Okten G, Kara N, Saglam Y, Tasdemir H A, Kayacik O Eroğlu, Tural S
机构信息
Ondokuz Mayis University, Faculty of Medicine, Department of Medical Biology and Genetics, Samsun, Turkey.
出版信息
Genet Couns. 2008;19(3):261-5.
PMID:18990980
Abstract
We report an 18-year-old Turkish girl with an 18q- deletion and abnormalities of face, mental and growth retardation, mitral deficiency and hypothyroidism. Mitral deficiency has not been reported in 18q deletion syndrome cases previously. We performed cytogenetic and molecular cytogenetic analysis, and brain MRI. Her karyotype was 46,XX,del(18)(q21.2-->qter). This report compares the symptoms and features of the present patient with previously reported cases with 18q syndrome.
摘要
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