ISSN 1302-9940 | e-ISSN 1308-8491

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Kromozom 22q11.2 Delesyum Sendromunun Nadir Bir Bulgusu: Multlkistik Displastik Bbrek [J Child]
J Child. 2019; 19(3): 163-166 | DOI: 10.5222/j.child.2019.76768

Kromozom 22q11.2 Delesyum Sendromunun Nadir Bir Bulgusu: Multlkistik Displastik Bbrek

Fuat Burul1, Fahrettin Duymus2
1Seluk niversitesi Tp Fakltesi ocuk Endokrinolojisi Bilim Dal, Konya, Trkiye
2Seluk niversitesi Tp Fakltesi Tbbi Genetik Anabilim Dal, Konya, Trkiye

Velo-kardiyo-fasiyal /DiGeorge sendromu olarak da bilinen 22q11.2 delesyon sendromu 4000 canl doumda bir grlen en yaygn mikrodelesyon sendromudur. 22q11.2 otozomal dominant kaltlan bir hastalktr ancak hastalarn yaklak %90' 22q11.2 kromozomunda spontan ortaya kan heterozigot delesyonlara sahiptir. Sendromun klasik triad konotrunkal kalp anomalileri (Fallot, VSD, trunkusarteriozus, kesintili aortik ark gibi), hipoplastik timusa bal immun yetersizlik ve paratiroid hipoplazisine bal hipokalsemidir. Klinik zellikler hastann yana bal olarak deiiklik gsterebilir. Tan klinik ve laboratuvar bulgularyla phelenilen vakalarda floresan in situ hibridizasyon (FISH) yntemi kullanlarak delesyonun gsterilmesiyle konur. Bu yazda 22q11.2 delesyon sendromuna nadir elik eden multikistik displastik bbrei olan adlesan kz olgusu sunulmutur.

Anahtar Kelimeler: 22q11.2 Delesyon Sendromu, DiGeorge Sendromu, Multikistik Displastik Bbrek

A Rare Fndng of Chromosome 22q11.2 Deleton Syndrome: Multcystc Dysplastk Kdney

Fuat Burul1, Fahrettin Duymus2
1Selcuk University Faculty Of Medicine, Department Of Pediatric Endocrinology, Konya, Turkey
2Selcuk University Faculty Of Medicine, Department Of Medical Genetics, Konya, Turkey

22q11.2 deletion syndrome also known as velocardiofacial/ DiGeorge syndrome is the most common microdeletion syndrome seen in every 4000 live births. 22q11.2 deletion syndrome is an autosomal dominant inherited disease approximately 90% of the patients have spontaneous heterozygous deletions on chromosome 22q11.2. The classic triad of the syndrome is conotruncal heart abnormalities, immune deficiency due to hypoplastic thymus and hypocalcemia due to parathyroid hypoplasia. The clinical features may vary depending on the age of the patient. The diagnosis is made by demonstrating microdeletion using FISH in cases suspected with clinical and laboratory findings. In this article a rare case of 22q11.2 deletion syndrome is presented in an adolescent girl with multicystic dysplastic kidney accompanying.

Keywords: 22q11.2 Deletion Syndrome, DiGeorge Syndrome, Multicystic Dysplastic Kidney

Fuat Burul, Fahrettin Duymus. A Rare Fndng of Chromosome 22q11.2 Deleton Syndrome: Multcystc Dysplastk Kdney. J Child. 2019; 19(3): 163-166

Sorumlu Yazar: Fuat Burul, Trkiye
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