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Case Reports
. 2016 Jun 18:9:48.
doi: 10.1186/s13039-016-0255-7. eCollection 2016.

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

Jieping Song #  1 , Xi Li #  2 , Lei Sun #  3 , Shuqin Xu  1 , Nian Liu  1 , Yanyi Yao  1 , Zhi Liu  1 , Weipeng Wang  1 , Han Rong  4 , Bo Wang  1
Affiliations
Case Reports

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

Jieping Song et al. Mol Cytogenet. .

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.

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.

Keywords: Chromosome karyotype; Evolution; FISH; Robertsonian translocation homozygosity; aCGH.

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Figures

Fig. 1
Fig. 1
Pedigree of the family transmitting Rob translocation chromosome t(14; 15)(q10;q10) Open hexagon designates a presumed carrier of t(14; 15)(q10;q10). Filled hexagon designates a known carrier of t(14;15)(q10;q10). The proband, IV-1 (arrow), has disomy t(14;15)(q10;q10). The proband’s wife, IV-2, had a normal karyotype. Their deceased son, V-1, was a carrier of karyotype 45,XY,der(14;15)(q10;q10)
Fig. 2
Fig. 2
Karyotype of the proband with 44,XY,der(14;15)(q10;q10),der(14;15)(q10;q10) chromosomal constitution The arrows indicated disomy of chromosome der(14;15)
Fig. 3
Fig. 3
aCGH analysis of IV-1 revealed a 2.03 Mb duplication at chromosome 15 q11.1-q11.2 (arr 15q11.1q11.2(20,481,702-22,509,254)x4)
Fig. 4
Fig. 4
Sperm cells after hybridization with TelVysion 14q32.33 (Spectrum Red) and TelVysion 15q26.3 (Spectrum Green). The sperm with red arrow may be a diploid sperm
See this image and copyright information in PMC

References

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