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Mol Cytogenet. 2016 Feb 2;9:9. doi: 10.1186/s13039-016-0218-z. eCollection 2016.

Preferential Y-Y pairing and synapsis and abnormal meiotic recombination in a 47,XYY man with non obstructive azoospermia.

Wu C#1,2, Wang L#3,4, Iqbal F3,5, Jiang X3,4, Bukhari I3,4, Guo T6, Yin G7, Cooke HJ3,4, Cao Z2, Jiang H1,2, Shi Q3,4.

Author information

The Reproductive Medicine Center, Clinical College of People's Liberation Army Affiliated to Anhui Medical University, Hefei, Anhui China.
The Reproductive Medicine Center, 105 Hospital of People's Liberation Army, Hefei, Anhui China.
Molecular and Cell Genetics Laboratory, The CAS Key Laboratory of Innate Immunity and Chronic Diseases, Hefei National Laboratory for Physical Sciences at Microscale, School of Life Sciences, University of Science and Technology of China, Hefei, Anhui 230027 China.
Collaborative Innovation Center of Genetics and Development, Fudan University, Shanghai, 200438 China.
Institute of Pure and Applied Biology, Bahauddin Zakariya University, Multan, 60800 Pakistan.
Center for Reproductive Medicine, Anhui Medical University, Affiliated Provincial Hospital, Hefei, China.
Anhui Provincial Family Planning Institute of Science and Technology, Hefei, China.
Contributed equally



Men with 47, XYY syndrome are presented with varying physical attributes and degrees of infertility. Little information has been documented regarding the meiotic progression in patients with extra Y chromosome along with the synapses and recombination between the two Y chromosomes.


Spermatocyte spreading and immunostaining were applied to study the behavior of the extra Y chromosome during meiosis I in an azoospermia patient with 47, XYY syndrome and results were compared with five healthy controls with proven fertility.


The extra Y chromosome was present in all the studied spermatocytes of the patient and preferentially paired and synapsed with the other Y chromosome. Consistently, gamma-H2AX staining completely disappeared from the synapsed regions of Y chromosomes. More interestingly, besides recombination on short arms, recombination on the long arms of Y chromosomes was also observed. No pairing and synapsis defects between homologous autosomes were detected, while significantly reduced recombination frequencies on autosomes were observed in the patient. The meiotic prophase I progression was disturbed with significantly increased proportion of leptotene, zygotene cells and decreased pachytene spermatocytes in the patient when compared with the controls.


These findings highlight the importance of studies on meiotic behaviors in patients with an abnormal chromosomal constitution and provide an important framework for future studies, which may elucidate the impairment caused by extra Y chromosome in mammalian meiosis and fertility.


Meiosis; Meiotic sex chromosome inactivation (MSCI); Sex chromosomes; XYY syndrome

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