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

  • Genetics
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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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Authors and Affiliations

  1. Department of Obstetrics and Gynecology, Kuo General Hospital, No. 22, Sec. 2, Minsheng Road, Tainan City, Taiwan

    Long-Ching Kuan & Tsung-Cheng Kuo

  2. Department of Obstetrics and Gynecology, National Cheng Kung University Hospital and College of Medicine, Tainan, Taiwan

    Mei-Tsz Su & Pao-Lin Kuo

  3. Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan

    Ming Chen

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  1. Long-Ching Kuan
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  2. Mei-Tsz Su
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  3. Ming Chen
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  4. Pao-Lin Kuo
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  5. Tsung-Cheng Kuo
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Correspondence to Tsung-Cheng Kuo.

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Isodicentric Y chromosome could result from breakage and fusion at the Yq pseudo-autosomal region.

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Kuan, LC., Su, MT., Chen, M. et al. A non-mosaic isodicentric Y chromosome resulting from breakage and fusion at the Yq pseudo-autosomal region in a fetus. J Assist Reprod Genet 30, 1559–1562 (2013). https://doi.org/10.1007/s10815-013-0119-6

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  • DOI: https://doi.org/10.1007/s10815-013-0119-6

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