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Journals / Dicle Tıp Dergisi / 2006 / Cilt: 33 - Sayı: 2

Two siblings with pre-diagnosis of ambiguous genitalia

Ambigious genitalia ön tanılı iki kardeş

DİCLEHAN ORAL
M. Nail ALP
Hülya ÖZTÜRK
Turgay BUDAK
Pages
98–100
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

The cases were evaluated as male pseudohermaphrodism and urogenetical reconstruction was performed.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Chromosome analysis and buccal smear were performed to two siblings refered to Genetic Laboratory of Medical Biology Department with prediagnosis of Ambiguos Genitalia.
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Key Findings & Data:The preparates were then stained by Giemsa Technique (GTG), and 25-cells were counted for each patient.
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Conclusion & Impact:The cases were evaluated as male pseudohermaphrodism and urogenetical reconstruction was performed.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Rekonstrüktif cerrahi işlemler · Kromozom sapmaları · Psödohermafroditizm

Abstract

Chromosome analysis and buccal smear were performed to two siblings refered to Genetic Laboratory of Medical Biology Department with prediagnosis of Ambiguos Genitalia. The patients were clinically examined in the Department of Child Surgery. For chromosome analysis, cell culture was performed. The preparates were then stained by Giemsa Technique (GTG), and 25-cells were counted for each patient. In addition, 25 metaphase chromosomes were karyotyped for each one, and 46,XY karyotype was identified. The cases were evaluated as male pseudohermaphrodism and urogenetical reconstruction was performed.

Özet

Ambigious genitalia ön tanısı ile Tıbbi Biyoloji Anabilim Dalı Genetik Laboratuvarına gönderilen iki kardeşe kromozom analizi ve buccal smear uygulandı. Hastalar Çocuk Cerrahisi Bölümünde klinik olarak incelenedi. Kromozom analizi için hücre kültürü uygulandı. Hazırlanan preparatlar giemsa boya tekniği (GTG) ile boyanarak her bir hasta için 25 hücre sayıldı. Her bir hasta için 25 metafazda karyotip yapıldı ve 46,XY karyotipi saptandı. X kromatin negatif görüldü. Hastalar erkek psödohermafrodizm olarak değerlendirildi ve gerekli ürogenital rekonstrüksiyon yapıldı.

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Cite This Article

ORAL, D., ALP, M. N., ÖZTÜRK, H., BUDAK, T. (2006). Two siblings with pre-diagnosis of ambiguous genitalia. Dicle Tıp Dergisi, Cilt: 33 - Sayı: 2, 98–100. https://ajindex.com/articles/349360

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References (6)

  1. Thompson JS, Thompson MW. Genetic in medicine Philadelphia: Saunders Company, 1991;231-246
  2. Demirhan O, Karahan DS, Tanrıverdi N. Cinsiyet Gelişim Bozukluğu Olan Çocuklarda Kromozom Düzensizlikleri. Çukurova Üni., Tıp Fak., Dergisi, 1999; 24; 153-157
  3. Sinclair AH, New genes for boys. Am J Hum Genet, 1995; 57:998-1001
  4. Jager RJ, Harley VR, Pleiffer RA,et all. A familial mutation in the testis- determining gene SRY shared by both sexes. Hum Genet, 1992; 90:350-355
  5. Gad YZ, Nasr H, Mazen 1, et al. 5α reducrase deficiency in patients with mikropenis. J lnher Metab Dis, 1997;20:95-101
  6. Alikaşifoğlu MA. Ambigious Genitalya’ya Klinik Yaklaşım. Sted, 2003; 12: 141-145.