PMID- 32034751
OWN - NLM
STAT- MEDLINE
DCOM- 20200305
LR  - 20200305
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 37
IP  - 2
DP  - 2020 Feb 10
TI  - [Prenatal diagnosis for two fetuses carrying partial deletion of Y chromosome].
PG  - 182-185
LID - 10.3760/cma.j.issn.1003-9406.2020.02.021 [doi]
AB  - OBJECTIVE: To perform prenatal diagosis for two fetuses carrying partial deletion 
      of Y chromosome. METHODS: Routine G- and C-banding were carried out to analyze 
      the chromosomal karyotypes of the fetuses and their fathers. Fetal DNA was also 
      subjected to low-coverage massively parallel copy number variation sequencing 
      (CNV-seq), fluorescence in situ hybridization (FISH), SRY gene and AZF factor 
      testing. RESULTS: Both fetuses showed a 46, XN, del(Y) (q11.2) karyotype at 
      320-400 band level by the analysis of amniotic fluid chromosomes. FISH with Y 
      chromosome centromere probe indicated that in both cases the number of Y 
      chromosome was normal. Both fathers had an apparently normal karyotype at 320-400 
      band level. For fetus 1, CNV-seq test revealed a 12.88 Mb deletion at 
      Yq11.221-q12, which encompassed the whole of AZFb+AZFc regions and may lead to 
      male infertility, sperm deficiency and/or severe oligospermia. In fetus 2, 
      CNV-seq also detected a 14.84 Mb deletion at Yq11.21-q12, which encompassed the 
      whole of the AZF region and may lead to severe spermatogenesis disorder resulting 
      in severe oligoasthenospermia and azoospermia. In both cases, testing of SRY gene 
      was positive. No point mutation of the SRY gene was identified. Analysis of 
      amniotic fluid DNA confirmed partial or total absence of AZF in the two fetuses, 
      respectively. CONCLUSION: Combined use of various technologies can enable 
      accurate detection of structural abnormalities of the Y chromosome and facilitate 
      genetic counseling. CNV-seq can help with rapid screening of Y chromosome 
      microdeletions and may be used as a complementary test for chromosomal 
      karyotyping.
FAU - Pang, Hong
AU  - Pang H
AD  - Shenyang Women's and Children's Hospital, Shenyang, Liaoning 110001, China. 
      panghong_yc@126.com.
FAU - Gao, Ming
AU  - Gao M
FAU - Hua, Jun
AU  - Hua J
FAU - Tong, Dan
AU  - Tong D
FAU - Zhao, Yanhui
AU  - Zhao Y
FAU - Feng, Xiaojing
AU  - Feng X
LA  - chi
PT  - Case Reports
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
RN  - Male sterility due to Y-chromosome deletions
SB  - IM
MH  - Chromosome Deletion
MH  - *Chromosomes, Human, Y
MH  - DNA Copy Number Variations
MH  - Female
MH  - Fetus
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infertility, Male
MH  - Male
MH  - *Oligospermia
MH  - Pregnancy
MH  - Prenatal Diagnosis
MH  - Sex Chromosome Aberrations
MH  - Sex Chromosome Disorders of Sex Development
EDAT- 2020/02/09 06:00
MHDA- 2020/03/07 06:00
CRDT- 2020/02/09 06:00
PHST- 2020/02/09 06:00 [entrez]
PHST- 2020/02/09 06:00 [pubmed]
PHST- 2020/03/07 06:00 [medline]
AID - 940637041 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2020.02.021 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Feb 10;37(2):182-185. doi: 
      10.3760/cma.j.issn.1003-9406.2020.02.021.