Familial 22q11.2 deletion syndrome with autosomal dominant inheritance

Bahar Göktürk; Mahmut Gökdemir; İsmail Reisli; Mahmut Yıldırım

Article Details

Familial 22q11.2 deletion syndrome with autosomal dominant inheritance

Authors:

Bahar Göktürk | Mahmut Gökdemir | İsmail Reisli | Mahmut Yıldırım

Publisher:

Cukurova University

Journal:

Cukurova Medical Journal 2016 Vol.41 Issue 2, pp.379-385

Document Type:

Article

Publication Date:

6/2016

Document Language:

English

Document ID (Org No.):

2000916810

Frequency:

Quarterly

eISSN:

2602-3040

pISSN:

2602-3032

Keywords:

Abstract:

 


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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İnsanlardaki en sık mikrodelesyon sendromu olan 22q11.2 delesyon sendromu sadece bir kromozomun etkilenmesiyle oluşan hemizigot bir delesyon sonucu oluşur. Hastaların çoğunda de novo mutasyon söz konusudur ancak %5-20’sinde ebeveynlerde birisinde etkilenme olabilir (otozomal dominant geçiş). Bu hasta grubundaki genotip-fenotip korelasyonu oldukça zayıftır. Biz de otozomal dominant geçişin söz konusu olduğu 22q11.2 delesyon sendromu olan ve farklı klinik bulguları olan üç aile bireyini sunmayı hedefledik.

Article Details

Familial 22q11.2 deletion syndrome with autosomal dominant inheritance

Authors:

Bahar Göktürk | Mahmut Gökdemir | İsmail Reisli | Mahmut Yıldırım

Publisher:

Cukurova University

Journal:

Cukurova Medical Journal 2016 Vol.41 Issue 2, pp.379-385

Document Type:

Article

Publication Date:

6/2016

Document Language:

English

Document ID (Org No.):

2000916810

Frequency:

Quarterly

eISSN:

2602-3040

pISSN:

2602-3032

22q11.2 delesyon sendromu

DiGeorge sendromu

otozomal dominant geçiş

Issues

Article Details

Familial 22q11.2 deletion syndrome with autosomal dominant inheritance

Authors: Bahar Göktürk | Mahmut Gökdemir | İsmail Reisli | Mahmut Yıldırım

Publisher: Cukurova University

Journal: Cukurova Medical Journal 2016 Vol.41 Issue 2, pp.379-385

Document Type: Article

Publication Date: 6/2016

Document Language: English

Document ID (Org No.): 2000916810

Frequency: Quarterly

eISSN: 2602-3040

pISSN: 2602-3032

22q11.2 delesyon sendromu

DiGeorge sendromu

otozomal dominant geçiş

Issues

Authors:

Bahar Göktürk | Mahmut Gökdemir | İsmail Reisli | Mahmut Yıldırım

Publisher:

Cukurova University

Journal:

Cukurova Medical Journal 2016 Vol.41 Issue 2, pp.379-385

Document Type:

Article

Publication Date:

6/2016

Document Language:

English

Document ID (Org No.):

2000916810

Frequency:

Quarterly

eISSN:

2602-3040

pISSN:

2602-3032