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 journalArticle

2 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

Fingerprint

Chromosome Breakage
Y Chromosome
Fetus
Chromosomes
Telomere
Parturition

All Science Journal Classification (ASJC) codes

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

Cite this

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title = "A non-mosaic isodicentric y chromosome resulting from breakage and fusion at the Yq pseudo-autosomal region in a fetus",
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.",
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A non-mosaic isodicentric y chromosome resulting from breakage and fusion at the Yq pseudo-autosomal region in a fetus. / Kuan, Long Ching; Su, Mei-Tsz; Chen, Ming; Kuo, Pao-Lin; Kuo, Tsung Cheng.

In: Journal of assisted reproduction and genetics, Vol. 30, No. 12, 01.12.2013, p. 1559-1562.

Research output: Contribution to journalArticle

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T1 - A non-mosaic isodicentric y chromosome resulting from breakage and fusion at the Yq pseudo-autosomal region in a fetus

AU - Kuan, Long Ching

AU - Su, Mei-Tsz

AU - Chen, Ming

AU - Kuo, Pao-Lin

AU - Kuo, Tsung Cheng

PY - 2013/12/1

Y1 - 2013/12/1

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AB - 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.

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