Journals / Türk Jinekoloji ve Obstetrik Derneği Dergisi / 2010 / Cilt: 7 - Sayı: 2

46, XX, del(8)(q22), der(9) t(8;9)(q22;p24) balanced translocation carrier with hypogonadotropic hypogonadism

46, XX, del(8)(q22), der(9) t(8;9)(q22;p24) dengeli translokasyon taşıyıcısı hipogonadotropik hipogonadizm olgusu

Pages
145–148
Publication Date
2022-11-05
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

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

In this case report; the relation of autosomal translocations mentioned above and hypogonadotropic hypogonadism are discussed.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Balanced autosomal translocations are unusually observed in the patients with hypogonadotropic hypogonadism.
📊
Key Findings & Data:The patient with hypogonadotropic hypogonadism had balanced reciprocal translocation involving chromosomes 8 and 9.
💡
Conclusion & Impact:In this case report; the relation of autosomal translocations mentioned above and hypogonadotropic hypogonadism are discussed.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Balanced autosomal translocations are unusually observed in the patients with hypogonadotropic hypogonadism. The patient with hypogonadotropic hypogonadism had balanced reciprocal translocation involving chromosomes 8 and 9. The patient’s father, two brothers and a sister have the same chromosomal translocation with no apparent physicial abnormalities. In this case report; the relation of autosomal translocations mentioned above and hypogonadotropic hypogonadism are discussed.

Özet

Hipogonadotropik hipogonadizmli hastalarda dengeli otozomal translokasyonların görülmesi nadirdir. Hipogonadotropik hipogonadizmli bir hastada 8 ve 9 numaralı kromozomları kapsayan dengeli resiprokal translokasyon tespit edilmiştir. Hastanın babası, iki abisi ve bir kızkardeşi görünür bir fiziksel anomaliye sahip olmayıp aynı kromozomal translokasyonu taşımaktadır. Bu olgu sunumunda, sözkonusu translokasyonun hastada görülen hipogonadotropik hipogonadizm ile ilişkisi literatür bilgisi ışığında tartışılmaktadır.

🔖

Cite This Article

AKBAŞ, H., ALP, M. N., BUDAK, T., YALINKAYA, A. (2022). 46, XX, del(8)(q22), der(9) t(8;9)(q22;p24) balanced translocation carrier with hypogonadotropic hypogonadism. Türk Jinekoloji ve Obstetrik Derneği Dergisi, Cilt: 7 - Sayı: 2, 145–148. https://ajindex.com/articles/631662

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (6)

  1. Başaran, N.: Tıbbi Genetik (Ders kitabı). 7.Baskı, Güneş& Nobel Tıp Kitabevi, Ankara, Bölüm 1999; 9: 161
  2. Kıkuchı I., Nagamine M., Ueda A., Mıhara K., Seıta M., and Mınoda M. Chromosomal translocation t(13;16) in a patient with idiopathic hypogonadotropic hypogonadism. Intern Med. 1993; 32(6): 465- 7
  3. Shimizu R, Mitsui N, Mori Y, Cho S, Yamamori S, Osawa M, Ohashi H. Cryptic 17q22 deletion in a boy with a t(10;17) (p15.3;q22) translocation, multiple synostosis syndrome 1, and hypogonadotropic hypogonadism. Am J Med Genet A. 2008; 146: 1458- 61
  4. Kim HG, Herrick SR, Lemyre E, Kishikawa S, Salisz JA, Seminara S, MacDonald ME, Bruns GA, Morton CC, Quade BJ, Gusella JF. Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1. J Med Genet. 2005; 42(8): 666-72
  5. Hughes P.J., J.M., Rice Edwards, M.A.C. Ridler, and R.J.M., Lane. A balanced autosomal translocation (3;9) associated with primary hypogonadism and dorsal spine stenosis. Clin. Genet. 1993; 43: 44- 5
  6. Wang J-C.C., Passage M.B., Yen P.H., Shapiro L.J., Mohandas T.K. Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier.Am J Hum Genet. 1991; 48(6): 1069- 74.