Parsiyel 9p Trizomili Bir Olgu ve Konuşma Bozukluğu

Amaç & Hipotez:In this study, we aimed to discuss the relationships between his phenotypic anomalies and der(15), ish t(9;15)(p12;q10) balanced reciprocal translocation entity that determined from 5 year old male child who referred to our laboratory for cytogenetic analysis.

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Temel Bulgular & Veri:He has complaints speech impairment and growth retardation.

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Sonuç & Katkı:So, we discussed relationship between phenotypic anomalies and genetic characteristics of case in the light of the literature.

🔬Tür:Araştırma Makalesi

📍Kapsam:Genişletilmiş Akademik Örneklem

⚙️Değişkenler:Alan Parametreleri

Özet

In this study, we aimed to discuss the relationships between his phenotypic anomalies and der(15), ish t(9;15)(p12;q10) balanced reciprocal translocation entity that determined from 5 year old male child who referred to our laboratory for cytogenetic analysis. He has complaints speech impairment and growth retardation. And whose family has no phenotypic anomalies. After assessing the case's pedigree, the preparations obtained from case and relatives using peripheric blood culture method and evaluated with GTG banding. Cytogenetic analyses of her father and mother revealed normal karyotypes. We convinced that the balanced reciprocal translocation may be as a result of de novo mechanism. So, we discussed relationship between phenotypic anomalies and genetic characteristics of case in the light of the literature.

Abstract

Bu çalışmada, sitogenetik analiz amacıyla laboratuarımıza refere edilen 5 yaşında bir erkek çocukta saptanan der(15), ish t(9;15)(p12;p11,2) translokasyon ve olgunun fenotipik anomalileri arasındaki ilişkileri tartışmayı amaçladık. 5 yaşındaki erkek olgumuz konuşma bozukluğu ve gelişme geriliği şikayetlerine sahipken, olgunun aile bireylerinde herhangi bir fenotipik anomali bulunmamaktaydı. Olgunun aile öyküsünün değerlendirilmesinin ardından, periferik kan kültürü metodu kullanarak olgu ve aile bireylerinden elde edilen preparatlar GTG bantlama yöntemiyle değerlendirildi. Bunun yanında, olgunun annesi ve babasında yapılan sitogenetik analizler normal karyotiplere sahip olduklarını gösterdi. Olgumuzun sahip olduğu translokasyonun, bilinmeyen de novo mekanizmalar sonucu ortaya çıktığı kanaati edinildi. Bu çalışmada, olgunun fenotipik anomalileri ve genetik özellikleri arasındaki ilişkileri literatür ışığında tartıştık.

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Bu Makaleye Atıf Yap

TEKCAN, A., KARA, N., TURAL, Ş., ELBİSTAN, M., KARAKUŞ, N. (2022). Parsiyel 9p Trizomili Bir Olgu ve Konuşma Bozukluğu. Journal of Clinical and Analytical Medicine, Cilt: 6 - Sayı: 6, 796–798. https://ajindex.com/articles/561120

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Kaynakça (12)

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