Journals / Çukurova Üniversitesi Tıp Fakültesi Dergisi / 1999 / Cilt: 24 - Sayı: 4

Chromosome abnormalities among the children with sexual differentiation disorders

Cinsiyet gelişim bozukluğu olan çocuklarda kromozom düzensizlikleri

Pages
153–157
Publication Date
2022-10-10
DOI
—
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AI Summary & Key Takeaways

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

Correlation of clinical diagnosis to cytogeneticals findings, incidence, and the mechanism of disorder were discussed in the light of literature.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Fifty three cases with abnormal sexual development were subjected to cytogenetical analysis.
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Key Findings & Data:Among them, 11 Turner syndrome, 1 Klinefelter syndrome, and 9 normal karyotype were found.
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Conclusion & Impact:Correlation of clinical diagnosis to cytogeneticals findings, incidence, and the mechanism of disorder were discussed in the light of literature.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Fifty three cases with abnormal sexual development were subjected to cytogenetical analysis. Among them, 11 Turner syndrome, 1 Klinefelter syndrome, and 9 normal karyotype were found. The relationship between clinical findings and micropenis, adrenogenital syndrome, intersex or ambiguous genitalia, and cytogenetical diagnosis was evaluated. Correlation of clinical diagnosis to cytogeneticals findings, incidence, and the mechanism of disorder were discussed in the light of literature.

Özet

Anormal cinsiyet gelişimi nedeniyle sitogenetik analizi istenen 53 olgu incelendi. Bunlardan; 11 Turner sendromu, 1 Klinefelter sendromu ve 9 normal karyotip saptandı. Klinik tanı almış küçük penis, adrenogenital sendrom ve interseks veya ambiguous genetalia ile sitogenetik bulgular arasındaki ilişki değerlendirildi. Olguların klinik tanısı ile sitogenetik bulguları, insidansı ve oluşum mekanizmaları, literatür ışığında tartışıldı.

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Cite This Article

DEMİRHAN, O., TANRIVERDİ, N., KARAHAN, S. D. (2022). Chromosome abnormalities among the children with sexual differentiation disorders. Çukurova Üniversitesi Tıp Fakültesi Dergisi, Cilt: 24 - Sayı: 4, 153–157. https://ajindex.com/articles/486213

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References (13)

  1. Başaran N. Tıbbi Genetik Ders Kitabı. Bilim Teknik Yayınevi, Eskişehir 1996; 250-261
  2. Connor JM, Ferguson-Smith MA. Essential medical genetics. V.London: Blackwell Scientific Publications 1993;127-41
  3. Demirel S, Çora T, Durakbaşı G, et al. Seksüel gelişme bozuklukları olan olgularda seks kromozom düzensizliklerinin değerlendirilmesi. S.Ü.Tıp Fak Derg 1997; 13:13-16
  4. Fechner PY, Marcantonia SM, Jaswaney V, et al. The role of the sex-determining region Y gene in the etiology of 46,XX, maleness. J Clin Endocrinol-Metab 1993; 76: 690-695
  5. Gad YZ, Nasr H, Mazen I, et al. 5 α-reducrase deficiency in patients with mikropenis. J Inher Metab Dis 1997; 20:95-101
  6. Goodfellow PN, Lovell-Badge R. SRY and sex determination in mammals. Ann Rev Genet 1993; 27:71-92
  7. Hook EB, Warburton D. The distribution of chromosomal genotypes associated with Turner's syndrome: Livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism. Hum Genet 1983; 64:24-7
  8. Hungerford DA. Leukocytes cultured from small inocula of whole blood and the preparation of metaphase chromosome by treatment with hypotonic KCl. Stain Techn 1965; 16:333-338
  9. Jacobs PA, Hassold TJ, Whittington E., et al. Klinefelter's syndrome; An analysis of the origin of the additional sex chromosome using molecular probes. Ann Hum Genet 1988; 52:93-109
  10. Jager RJ, Harley VR, Pleiffer RA,et al. A familial mutation in the testis-determining gene SRY shared by both sexes. Hum Genet 1992; 90:350-5
  11. Simpson JL, Mitchell S, Golbus MD. Genetics in obstetrics and gynecology. Philadelphia: WB Saunders Company 1992; 133-63
  12. Sinclair AH, New genes for boys, Am J Hum Genet 1995; 57:998-1001
  13. Thompson JS, Thompson MW. Genetic in medicine. Philadelphia: Saunders Company 1991; 231-46.