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18 September 2018 : Clinical Research  

Natural Transmission of b2/b3 Subdeletion or Duplication to Expanded Y Chromosome Microdeletions

Yuan Pan12AE, Lei-lei Li12BF, Yang Yu12B, Yu-ting Jiang12EF, Xiao Yang12CD, Hong-guo Zhang12DF, Rui-zhi Liu12G, Rui-xue Wang12AE*

DOI: 10.12659/MSM.911644

Med Sci Monit 2018; 24: CLR6559-6563


BACKGROUND: Y chromosome microdeletions are usually de novo mutations, but in several cases, transmission from fertile fathers to infertile sons has been reported.

MATERIAL AND METHODS: We report 3 cases of infertile patients who inherited expanded Y chromosome microdeletions from their fathers, who carried b2/b3 subdeletion or duplication. The karyotype was analyzed using G-banding. High-throughput sequencing was used to detect AZF region microdeletions.

RESULTS: Cytogenetic analysis showed a normal karyotype 46,XY in patient 1 (P1), patient 2 (P2), and their fathers (F1 and F2). Patient 3 (P3) and his father (F3) presented a karyotype of 46,XY,Yqh-. High-throughput sequencing for the AZF disclosed an identical b2/b3 subdeletion in the F1 and F2. P1 had an AZFc deletion that accounted for 3.5 Mb, and P2 had an AZFa+b+c microdeletion that accounted for 10.5 Mb. F3 had a b2/b3 duplication of 1.8Mb, but P3 had an AZFb+c deletion of 6.2 Mb.

CONCLUSIONS: Our findings suggest that b2/b3 partial deletion or duplication can lead to structural instability in the Y chromosome and be a risk factor of complete deletion of AZFc or more expanded deletion during transmission.

Keywords: Genetics, Infertility, Male, Y Chromosome


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Medical Science Monitor Basic Research eISSN: 2325-4416
Medical Science Monitor Basic Research eISSN: 2325-4416