Familial 22q11.2 deletion syndrome with autosomal dominant inheritance

Familial 22q11.2 deletion syndrome with autosomal dominant inheritance

22q11.2 deletion syndrome is the most frequent microdeletion syndrome in humans and caused by hemizygote deletion on only one chromosome. Most of probands have a de novo deletion of 22q11.2, but 8-20% have inherited the 22q11.2 deletion from a parent (autosomal dominant mutation). Genotype-phenotype...

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Bibliographic Details
Main Authors: Bahar Gokturk, Mahmut Gokdemir, ismail Reisli, Mahmut Selman Yildirim
Format: Article
Language:English
Published: Cukurova University 2016-06-01
Series:Çukurova Üniversitesi Tıp Fakültesi Dergisi
Subjects:
22q11.2 deletion syndrome
DiGeorge Syndrome
autosomal dominant inheritance
Online Access:http://www.scopemed.org/fulltextpdf.php?mno=202658

Internet

http://www.scopemed.org/fulltextpdf.php?mno=202658

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