4.6 Article

Two cases of complex balanced autosomal translocations associated with severe oligozoospermia

Journal

GENE
Volume 663, Issue -, Pages 126-130

Publisher

ELSEVIER SCIENCE BV
DOI: 10.1016/j.gene.2018.04.052

Keywords

Balanced translocation; Fluorescence in situ hybridization; Copy number variants; Oligozoospermia

Funding

  1. Youth Scientific Research Project of Fujian Provincial Health and Family Planning Commission [2015-2-52, 2016-2-72]
  2. Science and Technology Project of Fujian Province [2015D018, 2016D010, 2017D011]
  3. Xiamen Science and Technology Planning Project [3502Z20154033]
  4. Major/Important Disease Research Project [3502Z20159022]
  5. Young/Middle-aged Talent Cultivation Project [2015-ZQN-JC-44]
  6. Open Project of Key Laboratory of Male Reproductive and Genetics, National Health and Family Planning Commission of the People's Republic of China [KF201704]

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Complex balanced autosomal translocation is rare and can lead to impaired spermatogenesis in males; however, its effects on oligozoospermia have rarely been reported. We report here two cases of rare complex balanced translocation in men with infertility. The karyotype of the first case was 46,XY,der(1)t(1;12)(p22;p11.2)ins(9;1) (p24;g25g23),der(9)ins(9;1),der(12)t(1;12).ish der(1)t(1;12)(RP11-63631 +;RP11-659D23 +)ins(9;1)(RP11118P13 +),der(9)ins(9;1),der(12)t(1;12). And the patient showed severe oligozoospermia with adult schizophrenia without other abnormalities. The karyotype of the second patient was 46,XY,der(5)t(5;11) (q14;p11.2),der(11)011;18)(p11.2;q11.2),der(18)t(5,18)(q14;p11.3)add(18)(q11.2?).ish der(5)t(5;11)(RP11846K3 +,RP11-89B9 +),der(11)t(11;18)(RP11-8989-,RP11-170L12 +,RP11-469N6 +),der(18)t(5;18)(RP11125L2 +,RP11-29M13 +)add(18)(q11.2?), and the patient displayed severe oligozoospermia without other abnormalities. The two cases were verified by fluorescent in situ hybridization, and no abnormalities were found by genome-wide copy number variation analysis. To our knowledge, these two cases of complex autosomal karyotypes have not been reported previously. Although rare, these cases suggest that complex balanced translocations may be important causes of oligozoospermia. We speculate that the balanced translocation hinders germ cell meiosis and causes impaired spermatogenesis. Accordingly, the two reported patients have very low probabilities of giving birth to a normal child; therefore, we suggest choosing donor semen or adopting a child.

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