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 Kuo

Research output: Contribution to journalArticlepeer-review

5 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1559-1562
Number of pages4
JournalJournal of assisted reproduction and genetics
Volume30
Issue number12
DOIs
Publication statusPublished - 2013 Dec 1

All Science Journal Classification (ASJC) codes

  • Reproductive Medicine
  • Genetics
  • Obstetrics and Gynaecology
  • Developmental Biology
  • Genetics(clinical)

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