PMID- 30461224
OWN - NLM
STAT- MEDLINE
DCOM- 20190123
LR  - 20210109
IS  - 2324-9269 (Electronic)
IS  - 2324-9269 (Linking)
VI  - 6
IP  - 6
DP  - 2018 Nov
TI  - Infertility in a man with oligoasthenozoospermia associated with mosaic 
      chromosome 22q11 deletion.
PG  - 1249-1254
LID - 10.1002/mgg3.487 [doi]
AB  - BACKGROUND: A 30-year-old oligoasthenozoospermia man was found to have unbalance 
      mosaic translocation between chromosome 22 and four other chromosomes (5, 6, 13, 
      and 15) during the investigations for a couple with infertility for 3 years, 
      which is a rare event in human pathology. METHODS: Classical cytogenetics 
      analysis, fluorescence in situ hybridization (FISH), and chromosome microarray 
      analyses (CMA) were performed on peripheral blood lymphocytes; copy number 
      variation sequencing (CNV-Seq) analysis was performed on sperm DNA. RESULTS: 
      Classical cytogenetics analysis showed the presence of six cell lines on 
      peripheral blood lymphocytes: 45, XY, der (13) t(13;22),-22[10]/46, XY, 
      t(13;22)[6]/45, XY, der(15)t(15;22),-22[4]/46, XY, t(13;22)[1]/45, XY, 
      der(5)t(5;22),-22[1]/45, XY, der(6)t(6;22)[1]. FISH and CMA performed on 
      peripheral blood cells showed the presence of a 6.9 Mb mosaic 22q11 deletion 
      (approximately 50% of cells); it is unexpected that the phenotypes of this man 
      were merely oligoasthenozoospermia, mild bradycardia, and mild tricuspid 
      regurgitation. CNV-Seq analysis performed on sperm DNA revealed the rate of 22q11 
      deletion cells was obviously lower compared with peripheral blood cells. And the 
      frequency of gametes exhibiting a normal or balance chromosomal equipment was 
      above 80% in sperm samples. CONCLUSION: To the best of our knowledge, this report 
      is the first case of a de novo gonosomal mosaic of chromosome 22q11 deletion just 
      associated with male infertility.
CI  - (c) 2018 The Authors. Molecular Genetics & Genomic Medicine published by Wiley 
      Periodicals, Inc.
FAU - Liu, Yanyan
AU  - Liu Y
AD  - Prenatal Diagnosis Center, Department of Obstetrics & Gynecologic, Key Laboratory 
      of Birth Defects and Related Diseases of Women and Children (Sichuan University), 
      Ministry of Education, West China Second University Hospital, Sichuan University, 
      Chengdu, China.
FAU - Zhu, Hongmei
AU  - Zhu H
AD  - Prenatal Diagnosis Center, Department of Obstetrics & Gynecologic, Key Laboratory 
      of Birth Defects and Related Diseases of Women and Children (Sichuan University), 
      Ministry of Education, West China Second University Hospital, Sichuan University, 
      Chengdu, China.
FAU - Zhang, Xuan
AU  - Zhang X
AD  - Prenatal Diagnosis Center, Department of Obstetrics & Gynecologic, Key Laboratory 
      of Birth Defects and Related Diseases of Women and Children (Sichuan University), 
      Ministry of Education, West China Second University Hospital, Sichuan University, 
      Chengdu, China.
FAU - Hu, Ting
AU  - Hu T
AUID- ORCID: 0000-0002-4642-3848
AD  - Prenatal Diagnosis Center, Department of Obstetrics & Gynecologic, Key Laboratory 
      of Birth Defects and Related Diseases of Women and Children (Sichuan University), 
      Ministry of Education, West China Second University Hospital, Sichuan University, 
      Chengdu, China.
FAU - Zhang, Zhu
AU  - Zhang Z
AD  - Prenatal Diagnosis Center, Department of Obstetrics & Gynecologic, Key Laboratory 
      of Birth Defects and Related Diseases of Women and Children (Sichuan University), 
      Ministry of Education, West China Second University Hospital, Sichuan University, 
      Chengdu, China.
FAU - Wang, Jing
AU  - Wang J
AD  - Prenatal Diagnosis Center, Department of Obstetrics & Gynecologic, Key Laboratory 
      of Birth Defects and Related Diseases of Women and Children (Sichuan University), 
      Ministry of Education, West China Second University Hospital, Sichuan University, 
      Chengdu, China.
FAU - Lai, Yi
AU  - Lai Y
AD  - Prenatal Diagnosis Center, Department of Obstetrics & Gynecologic, Key Laboratory 
      of Birth Defects and Related Diseases of Women and Children (Sichuan University), 
      Ministry of Education, West China Second University Hospital, Sichuan University, 
      Chengdu, China.
FAU - Zheng, Jiemei
AU  - Zheng J
AD  - Prenatal Diagnosis Center, Department of Obstetrics & Gynecologic, Key Laboratory 
      of Birth Defects and Related Diseases of Women and Children (Sichuan University), 
      Ministry of Education, West China Second University Hospital, Sichuan University, 
      Chengdu, China.
FAU - Xie, Dan
AU  - Xie D
AD  - Prenatal Diagnosis Center, Department of Obstetrics & Gynecologic, Key Laboratory 
      of Birth Defects and Related Diseases of Women and Children (Sichuan University), 
      Ministry of Education, West China Second University Hospital, Sichuan University, 
      Chengdu, China.
FAU - Xia, Bei
AU  - Xia B
AD  - Prenatal Diagnosis Center, Department of Obstetrics & Gynecologic, Key Laboratory 
      of Birth Defects and Related Diseases of Women and Children (Sichuan University), 
      Ministry of Education, West China Second University Hospital, Sichuan University, 
      Chengdu, China.
FAU - Qin, Li
AU  - Qin L
AD  - Prenatal Diagnosis Center, Department of Obstetrics & Gynecologic, Key Laboratory 
      of Birth Defects and Related Diseases of Women and Children (Sichuan University), 
      Ministry of Education, West China Second University Hospital, Sichuan University, 
      Chengdu, China.
FAU - Xie, Liangyu
AU  - Xie L
AD  - Prenatal Diagnosis Center, Department of Obstetrics & Gynecologic, Key Laboratory 
      of Birth Defects and Related Diseases of Women and Children (Sichuan University), 
      Ministry of Education, West China Second University Hospital, Sichuan University, 
      Chengdu, China.
FAU - Liu, Shanling
AU  - Liu S
AD  - Prenatal Diagnosis Center, Department of Obstetrics & Gynecologic, Key Laboratory 
      of Birth Defects and Related Diseases of Women and Children (Sichuan University), 
      Ministry of Education, West China Second University Hospital, Sichuan University, 
      Chengdu, China.
FAU - Wang, He
AU  - Wang H
AD  - Prenatal Diagnosis Center, Department of Obstetrics & Gynecologic, Key Laboratory 
      of Birth Defects and Related Diseases of Women and Children (Sichuan University), 
      Ministry of Education, West China Second University Hospital, Sichuan University, 
      Chengdu, China.
FAU - Sun, Huaqin
AU  - Sun H
AUID- ORCID: 0000-0002-4548-4657
AD  - SCU-CUHK Joint Laboratory for Reproductive Medicine, Key Laboratory of Birth 
      Defects and Related Diseases of Women and Children (Sichuan University), Ministry 
      of Education, Department of Pediatrics, West China Second University Hospital, 
      Sichuan University, Chengdu, China.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20181120
PL  - United States
TA  - Mol Genet Genomic Med
JT  - Molecular genetics & genomic medicine
JID - 101603758
SB  - IM
MH  - 22q11 Deletion Syndrome/*genetics/pathology
MH  - Adult
MH  - Asthenozoospermia/*genetics/pathology
MH  - Humans
MH  - Karyotype
MH  - Male
MH  - *Mosaicism
MH  - Oligospermia/*genetics/pathology
PMC - PMC6305647
OTO - NOTNLM
OT  - 22q11 deletion
OT  - gonosomal mosaic
OT  - karyotypes
OT  - oligoasthenozoospermia
EDAT- 2018/11/22 06:00
MHDA- 2019/01/24 06:00
PMCR- 2018/11/20
CRDT- 2018/11/22 06:00
PHST- 2018/07/26 00:00 [received]
PHST- 2018/09/05 00:00 [revised]
PHST- 2018/09/17 00:00 [accepted]
PHST- 2018/11/22 06:00 [pubmed]
PHST- 2019/01/24 06:00 [medline]
PHST- 2018/11/22 06:00 [entrez]
PHST- 2018/11/20 00:00 [pmc-release]
AID - MGG3487 [pii]
AID - 10.1002/mgg3.487 [doi]
PST - ppublish
SO  - Mol Genet Genomic Med. 2018 Nov;6(6):1249-1254. doi: 10.1002/mgg3.487. Epub 2018 
      Nov 20.