A family with Robertsonian translocation: a potential mechanism of speciation in humans

作者：Song, Jieping; Li, Xi; Sun, Lei; Xu, Shuqin; Liu, Nian; Yao, Yanyi; Liu, Zhi; Wang, Weipeng; Rong, Han^*; Wang, Bo^*

来源：Molecular Cytogenetics, 2016, 9(1): 48.

DOI：10.1186/s13039-016-0255-7

• Chromosome karyotype
• FISH
• aCGH
• Robertsonian translocation homozygosity
• Evolution

Background: 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. @@@ Case Presentation: 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. @@@ Conclusions: The reproductive fitness of Robertsonian translocation carriers is reduced. Robertsonian translocation homozygosity can be a potential speciation in humans with 44 chromosomes.

• 出版日期2016-6-18
• 单位湖北省妇幼保健院; 北京大学; 深圳市精神卫生中心; 钦州市妇幼保健院