Familial 22q11.2 deletion syndrome with autosomal dominant inheritance

Familial 22q11.2 deletion syndrome with autosomal dominant inheritance

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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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