Rubinstein Taybi syndrome is a condition characterized by typical facial appearance broad thumbs broad great toes and motormental retardation So far 600 cases have been reported in the literature The most common chromosomal abnormality was identified as microdeletion of 16p13 3 in this syndrome In this paper a case of Rubinstein Taybi Syndrome with multiple cardiac abnormalities and unusual chromosomal abnormality [46 XY del 16 q2 3 ] is presented Key words: Rubinstein Taybi syndrome
📌 3 Key Takeaways
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Objective & Hypothesis:Rubinstein Taybi syndrome is a condition characterized by typical facial appearance broad thumbs broad great toes and motormental retardation So far 600 cases have been reported in the literature The most common chromosomal abnormality was identified as microdeletion of 16p13 3 in this syndrome In this paper a case of Rubinstein Taybi Syndrome with multiple cardiac abnormalities and unusual chromosomal abnormality [46 XY del 16 q2 3 ] is presented Key words: Rubinstein Taybi syndrome
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Key Findings & Data:Rubinstein Taybi syndrome is a condition characterized by typical facial appearance broad thumbs broad great toes and motormental retardation So far 600 cases have been reported in the literature The most common chromosomal abnormality was identified as microdeletion of 16p13 3 in this syndrome In this paper a case of Rubinstein Taybi Syndrome with multiple cardiac abnormalities and unusual chromosomal abnormality [46 XY del 16 q2 3 ] is presented Key words: Rubinstein Taybi syndrome
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Conclusion & Impact:Rubinstein Taybi syndrome is a condition characterized by typical facial appearance broad thumbs broad great toes and motormental retardation So far 600 cases have been reported in the literature The most common chromosomal abnormality was identified as microdeletion of 16p13 3 in this syndrome In this paper a case of Rubinstein Taybi Syndrome with multiple cardiac abnormalities and unusual chromosomal abnormality [46 XY del 16 q2 3 ] is presented Key words: Rubinstein Taybi syndrome
🔬Design:Makale
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters
Abstract
Rubinstein Taybi syndrome is a condition characterized by typical facial appearance broad thumbs broad great toes and motormental retardation So far 600 cases have been reported in the literature The most common chromosomal abnormality was identified as microdeletion of 16p13 3 in this syndrome In this paper a case of Rubinstein Taybi Syndrome with multiple cardiac abnormalities and unusual chromosomal abnormality [46 XY del 16 q2 3 ] is presented Key words: Rubinstein Taybi syndrome
Özet
Rubinstein Taybi sendromu tipik yüz görünümü geniş el baş parmağı ile geniş ve büyük ayak baş parmakları motor ve mental retardasyonun da eşlik ettiği malformasyonlar kompleksidir Literatürde şimdiye kadar 600 olgu bildirilmiştir Bu sendromda en sık görülen kromozom anomalisi 16 p13 3 delesyonu olarak saptanmıştır Şimdiye kadar literatüre geçen Rubinstein Taybi sendromu olgularının hiçbirinde 16 kromozomun uzun kolunda delesyon bildirilmemiştir Burada 16 kromozomun uzun kolunda delesyon saptadığımız ve multipl kardiak anomalileri bulunan Rubinstein Taybi sendromu olgusu sunulmuştur Anahtar kelimeler: Rubinstein Taybi sendromu
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Cite This Article
Narlı, N., Atıcı, A., Satar, M., Süleymanova, D. (2001). Rubinstein Taybi Syndrome: A Case Report 46 XY del 16 q2 3. Türk Pediatri Arşivi, Cilt: 36 Sayı: 1. https://ajindex.com/articles/1437885