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Journal of Assisted Reproduction and Genetics

, Volume 30, Issue 12, pp 1559–1562 | Cite as

A non-mosaic isodicentric Y chromosome resulting from breakage and fusion at the Yq pseudo-autosomal region in a fetus

  • Long-Ching Kuan
  • Mei-Tsz Su
  • Ming Chen
  • Pao-Lin Kuo
  • Tsung-Cheng KuoEmail author
Genetics

Abstract

The dicentric Y chromosomes are the most commonly found in the structural aberration of Y chromosome. If the dicentric chromosome has completely symmetric arms, it is considered an isodicentric chromosome. The sites of breakage and fusion at Yp and Yq are variable, but breakage and fusion at the pseudo-autosomal region has never been reported. Herein we reported identification de novo isodicentric (Yq12) in a fetus. The fusion occurred at Yq pseudo-autosomal region very close the telomere and resulted in duplication of Y chromosome. The baby was grossly normal at birth. In conclusion, isodicentric Y chromosome could result from breakage and fusion at the Yq pseudo-autosomal region.

Keywords

Y chromosome Isodicentric chromosome Pseudo-autosomal region 

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Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Long-Ching Kuan
    • 1
  • Mei-Tsz Su
    • 2
  • Ming Chen
    • 3
  • Pao-Lin Kuo
    • 2
  • Tsung-Cheng Kuo
    • 1
    Email author
  1. 1.Department of Obstetrics and GynecologyKuo General HospitalTainan CityTaiwan
  2. 2.Department of Obstetrics and GynecologyNational Cheng Kung University Hospital and College of MedicineTainanTaiwan
  3. 3.Department of Obstetrics and GynecologyChanghua Christian HospitalChanghuaTaiwan

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