Title |
A family with Robertsonian translocation: a potential mechanism of speciation in humans
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Published in |
Molecular Cytogenetics, June 2016
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DOI | 10.1186/s13039-016-0255-7 |
Pubmed ID | |
Authors |
Jieping Song, Xi li, Lei Sun, Shuqin Xu, Nian Liu, Yanyi Yao, Zhi Liu, Weipeng Wang, Han Rong, Bo Wang |
Abstract |
Robertsonian translocations occur in approximately one in every 1000 newborns. Although most Robertsonian translocation carriers are healthy and have a normal lifespan, they are at increased risk of spontaneous abortions and risk of producing unbalanced gametes and, therefore unbalanced offspring. Here we reported a previously undescribed Robertsonian translocation. We identified three Robertsonian translocation carriers in this family. Two were heterozygous translocation carriers of 45,XX or XY,der(14;15)(q10;q10) and their son was a homozygous translocation carrier of a 44,XY,der(14;15)(q10;q10), der(14;15)(q10;q10) karyotype. Chromosomal analysis of sperm showed 99.7 % of sperm from the homozygous translocation carrier were normal/balanced while only 79.9 % of sperm from the heterozygous translocation carrier were normal/balanced. There was a significantly higher frequency of aneuploidy for sex chromosome in the heterozygous translocation carrier. The reproductive fitness of Robertsonian translocation carriers is reduced. Robertsonian translocation homozygosity can be a potential speciation in humans with 44 chromosomes. |
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