THE EVALUATION OF SATELLITED Y CHROMOSOME (Yqs) DETERMINED IN PRENATAL DIAGNOSIS

Volume: 43 Number: 3 September 1, 2004
  • Tufan Çankaya
  • Çığır Biray
  • Cumhur Gündüz
  • Özgür Çoğulu
  • Derya Erçal
  • Cihangir Özkınay
  • Ferda Özkınay
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THE EVALUATION OF SATELLITED Y CHROMOSOME (Yqs) DETERMINED IN PRENATAL DIAGNOSIS

Abstract

Accurate interpretation of chromosomal polymorphisms from in the fetus is essential in prenatal diagnosis. Satellited Y chromosome (Yqs) is one of the very rare structural variations in the human karyotype. It is generally accepted that the Yqs chromosome is the product of a translocation of parts of the NOR- bearing short arm of an acrocentric autosome (15 or 22) to the long arm of the Y chromosome causing its satellited appearance. This structure made of active nucleolar organizer region (NOR), which is transcripted to the ribosomal RNA genes. These translocations have no apparent deleterious effects and can be revealed cytogenetically. Fetal karyotypes showed 46, XYqs in two pregnant women who were referred to Ege University Genetic Disease Research and Application Center. The indications for fetal cytogenetic study were advanced maternal age in the first case and increased risk in triple test in the second case. In both cases fathers showed a satellited Y chromosome (Yqs) in their karyotypes. The NOR staining was positive for each case. Regarding the similar cases reported before and paternal inheritance in both cases, it was considered that the Yqs is a polymorphism and does not cause any abnormality in the fetus. The babies were normal at birth as expected. The significance of the genetic counseling in cases with Yqs was discussed.

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Primary Language

Turkish

Subjects

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Journal Section

-

Authors

Tufan Çankaya

Çığır Biray

Cumhur Gündüz

Özgür Çoğulu

Derya Erçal

Cihangir Özkınay

Ferda Özkınay

Publication Date

September 1, 2004

Submission Date

September 1, 2004

Acceptance Date

-

Published in Issue

Year 1970 Volume: 43 Number: 3

IZ

https://izlik.org/JA63RM69WU

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RIS / Bibtex
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1.Tufan Çankaya, Çığır Biray, Cumhur Gündüz, Özgür Çoğulu, Derya Erçal, Cihangir Özkınay, Ferda Özkınay. PRENATAL TANIDA SAPTANAN SATELLİTLİ Y KROMOZOMUNUN (Yqs) DEĞERLENDİRİLMESİ. EJM [Internet]. 2004 Sep. 1;43(3):193-6. Available from: https://izlik.org/JA63RM69WU

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