title: A family with Robertsonian translocation: a potential mechanism of speciation in humans.
abstract: 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.
  
  
  METHODS
  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.
authors.affiliation: Genetics Laboratory, Hubei Maternal and Child Health Hospital, Wuhan, Hubei People's Republic of China.
authors.forename: Jieping
authors.initials: J
authors.lastname: Song
authors.affiliation: Department of gastroenterology, Peking University Shenzhen Hospital, Shenzhen, Guangdong People's Republic of China.
authors.forename: Xi
authors.initials: X
authors.lastname: Li
authors.affiliation: Laboratory of Medical Genetics, Qinzhou Maternal and Child Health Care Hospital, Guangxi, People's Republic of China.
authors.forename: Lei
authors.initials: L
authors.lastname: Sun
authors.affiliation: Genetics Laboratory, Hubei Maternal and Child Health Hospital, Wuhan, Hubei People's Republic of China.
authors.forename: Shuqin
authors.initials: S
authors.lastname: Xu
authors.affiliation: Genetics Laboratory, Hubei Maternal and Child Health Hospital, Wuhan, Hubei People's Republic of China.
authors.forename: Nian
authors.initials: N
authors.lastname: Liu
authors.affiliation: Genetics Laboratory, Hubei Maternal and Child Health Hospital, Wuhan, Hubei People's Republic of China.
authors.forename: Yanyi
authors.initials: Y
authors.lastname: Yao
authors.affiliation: Genetics Laboratory, Hubei Maternal and Child Health Hospital, Wuhan, Hubei People's Republic of China.
authors.forename: Zhi
authors.initials: Z
authors.lastname: Liu
authors.affiliation: Genetics Laboratory, Hubei Maternal and Child Health Hospital, Wuhan, Hubei People's Republic of China.
authors.forename: Weipeng
authors.initials: W
authors.lastname: Wang
authors.affiliation: Shenzhen mental health center, Shenzhen Kangning Hospital, Shenzhen, Guangdong People's Republic of China.
authors.forename: Han
authors.initials: H
authors.lastname: Rong
authors.affiliation: Genetics Laboratory, Hubei Maternal and Child Health Hospital, Wuhan, Hubei People's Republic of China.
authors.forename: Bo
authors.initials: B
authors.lastname: Wang
keywords: Chromosome karyotype; Evolution; FISH; Robertsonian translocation homozygosity; aCGH