PMID- 38171568
OWN - NLM
STAT- MEDLINE
DCOM- 20240105
LR  - 20240105
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 41
IP  - 1
DP  - 2024 Jan 10
TI  - [Genetic analysis of a case with mosaicism complex structural aberration of 
      chromosome 18].
PG  - 101-105
LID - 10.3760/cma.j.cn511374-20221123-00810 [doi]
AB  - OBJECTIVE: To determine the karyotype of a patient with mosaicism complex 
      structural aberration of chromosome 18. METHODS: A male patient with a 2-year 
      history of infertility presented at the Center of Reproductive Medicine of the 
      Third Hospital of Peking University in October 2019 was selected as the study 
      subject. Clinical data of the patient was collected. Peripheral blood sample was 
      taken for chromosomal karyotyping, copy number variation (CNV) analysis and 
      fluorescence in situ hybridization (FISH) assay. Semen sample was taken for 
      single sperm CNV analysis. RESULTS: The patient was found to have a karyotype of 
      mos 
      47,XY,del(18)(q21q23),+r(18)(q21q23)[84]/46,XY,del(18)(q21q23)[9]/48,XY,del(18)(q21q23),+r(18)(q21q23)x2[6]/47,XY,del(18)(q21q23),+r(18)(q21q23x2)[1].ish 
      47,XY,del(18)(q21q23),+r(18)(q21q23)[84]/46,XY,del(18)(q21q23)[9]/48,XY,del(18)(q21q23),+r(18)(q21q23)x2[6]/47,XY,del(18)(q21q23),+r(18)(q21q23x2)[1]del(18)(q21q23)(D18Z1+,18p+,18q+,WCP18+),r(18)(q21q23)(WCP18+),r(18)(q21q23x2)(WCP18+). 
      No pathogenic CNV was identified. Sequencing of 20 single sperms showed that 1 
      sperm was normal, 1 had yielded no result, 9 had harbored del(18q), 7 had 
      harbored dup(18q)x2, and 2 had harbored dup(18q)x3. The dup/del fragments had 
      both spanned approximately 33 Mb. CONCLUSION: It is rare for carriers of complex 
      structural and numerical abnormalities of chromosome 18 to have a normal 
      phenotype. Based on the accurate cytogenetic and molecular analyses and the 
      single sperm CNV analysis, the influence of the aberrant karyotype on the 
      gametogenesis may be evaluated.
FAU - Shao, Minjie
AU  - Shao M
AD  - Center for Reproductive Medicine, Department of Obstetrics and Gynecology, 
      National Clinical Research Center for Obstetrics and Gynecology, MOE Key 
      Laboratory for Assisted Reproduction, Beijing Key Laboratory of Reproductive 
      Endocrinology and Assisted Reproductive Technology, Peking University Third 
      Hospital, Beijing 100191, China. yanliyingkind@aliyun.com.
FAU - Yan, Zhiqiang
AU  - Yan Z
FAU - Zhu, Xiaohui
AU  - Zhu X
FAU - Yan, Liying
AU  - Yan L
FAU - Qiao, Jie
AU  - Qiao J
LA  - chi
PT  - English Abstract
PT  - Journal Article
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
SB  - IM
MH  - Male
MH  - Humans
MH  - *Mosaicism
MH  - In Situ Hybridization, Fluorescence
MH  - *Chromosomes, Human, Pair 18/genetics
MH  - DNA Copy Number Variations
MH  - Semen
MH  - Karyotype
EDAT- 2024/01/04 11:43
MHDA- 2024/01/05 06:42
CRDT- 2024/01/03 20:43
PHST- 2024/01/05 06:42 [medline]
PHST- 2024/01/04 11:43 [pubmed]
PHST- 2024/01/03 20:43 [entrez]
AID - 940641018 [pii]
AID - 10.3760/cma.j.cn511374-20221123-00810 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Jan 10;41(1):101-105. doi: 
      10.3760/cma.j.cn511374-20221123-00810.