Year 2019, Volume 9 , Issue 3, Pages 301 - 304 2019-09-30

Süt Çocukluğu Döneminde Tanı Alan Wıllıams-Beuren Sendromu Vakası: Erken Tanının Önemi
The case of williams-beuren syndrome diagnosed in infancy : the importance of early diagnosis

Fuat Buğrul [1] , Fahrettin Duymuş [2]


Williams-Beuren sendromu (WBS) 7. kromozomun uzun kolunun 11.23 bölgesinin mikrodelesyonu sonucu oluşan 1/ 20.000 sıklığında görülen nadir bir hastalıktır. Karakteristik yüz özelliklerine zihinsel yetersizlik, konjenital kalp anomalileri ve endokrin bozukluklar eşlik edebilir. Tanı klinik ve laboratuvar bulgularıyla şüphelenilen vakalarda floresan in situ hibridizasyon (FISH) yöntemi kullanılarak delesyonun gösterilmesiyle konur. Bu yazıda, WBS tanısı alan 8 aylıkbir vakanın tipik ve atipik bulguları tanımlanmış ve erken tanının öneminin vurgulanması amaçlanmıştır.


Abstract:

Williams-Beuren syndrome (WBS) is a rare disease with a frequency of 1/20000 caused by  the microdeletion of 11.23 regions of the long arm of chromosome 7. The characteristic facial features of WBS may be accompanied by the  mental deficiency, congenital heart abnormalities and endocrine disorders. The diagnosis is made by demonstrating the deletion using fluorescence in situ hybridization (FISH) in the cases suspected by the clinical and the laboratory findings.  The typical and atypical findings of an 8-month-old patient diagnosed with WBS is described  in this article and our aim is to emphasize the importance of early diagnosis of WBS .

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Primary Language tr
Subjects Health Care Sciences and Services
Journal Section Case Report
Authors

Orcid: 0000-0002-2276-4410
Author: Fuat Buğrul (Primary Author)
Institution: SELÇUK ÜNİVERSİTESİ, TIP FAKÜLTESİ, DAHİLİ TIP BİLİMLERİ BÖLÜMÜ, ÇOCUK SAĞLIĞI VE HASTALIKLARI ANABİLİM DALI
Country: Turkey


Orcid: 0000-0002-8130-9792
Author: Fahrettin Duymuş
Institution: SELÇUK ÜNİVERSİTESİ, TIP FAKÜLTESİ, DAHİLİ TIP BİLİMLERİ BÖLÜMÜ, TIBBİ GENETİK ANABİLİM DALI

Dates

Publication Date : September 30, 2019

EndNote %0 Journal of Contemporary Medicine Süt Çocukluğu Döneminde Tanı Alan Wıllıams-Beuren Sendromu Vakası: Erken Tanının Önemi %A Fuat Buğrul , Fahrettin Duymuş %T Süt Çocukluğu Döneminde Tanı Alan Wıllıams-Beuren Sendromu Vakası: Erken Tanının Önemi %D 2019 %J Journal of Contemporary Medicine %P -2667-7180 %V 9 %N 3 %R doi: 10.16899/jcm.598719 %U 10.16899/jcm.598719