Göktürk, Bahar Başkent Üniversitesi - Tıp Fakültesi - Çocuk Allerji ve İmmünoloji Bölümü, Turkey , Gökdemir, Mahmut Başkent Üniversitesi - Tıp Fakültesi - Çocuk Kardiyoloji Bölümü, Turkey , Reisli, İsmail Necmettin Erbakan Üniversitesi - Meram Tıp Fakültesi - Çocuk Allerji ve İmmünoloji Bölümü, Turkey , Yıldırım, Mahmut Selman Necmettin Erbakan Üniversitesi - Meram Tıp Fakültesi - Tıbbi Genetik Bölümü, Turkey

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 correlation is weak in this patient group. We aimed to present three members in the same family due to an autosomal dominant inheritance with 22q11.2 deletion and different clinical findings.

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22q11.2 deletion syndrome , DiGeorge Syndrome , autosomal dominant inheritance

Cukurova Medical Journal

385