PMID- 36972949
OWN - NLM
STAT- MEDLINE
DCOM- 20230329
LR  - 20230329
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 40
IP  - 4
DP  - 2023 Apr 10
TI  - [Genetic analysis of a Fra(16)(q22) fragile site in a female with secondary 
      infertility].
PG  - 495-499
LID - 10.3760/cma.j.cn511374-20220409-00237 [doi]
AB  - OBJECTIVE: To explore the genetic basis for a Fra(16)(q22)/FRA16B fragile site in 
      a female with secondary infertility. METHODS: The 28-year-old patient was 
      admitted to Chengdu Women's and Children's Central Hospital on October 5, 2021 
      due to secondary infertility. Peripheral blood sample was collected for G-banded 
      karyotyping analysis, single nucleotide polymorphism array (SNP-array), 
      quantitative fluorescent polymerase chain reaction (QF-PCR) and fluorescence in 
      situ hybridization (FISH) assays. RESULTS: The patient was found to harbor 5 
      mosaic karyotypes involving chromosome 16 in a total of 126 cells, which yielded 
      a karyotype of mos 
      46,XX,Fra(16)(q22)[42]/46,XX,del(16)(q22)[4]/47,XX,del(16),+chtb(16)(q22-qter)[4]/46,XX,tr(16)(q22)[2]/46,XX[71]. 
      No obvious abnormality was found by SNP-array, QF-PCR and FISH analysis. 
      CONCLUSION: A female patient with FRA16B was identified by genetic testing. Above 
      finding has enabled genetic counseling of this patient.
FAU - Xie, Chengxiu
AU  - Xie C
AD  - Department of Prenatal Diagnosis, Chengdu Women's and Children's Central 
      Hospital, School of Medicine, University of Electronic Science and Technology of 
      China, Chengdu, Sichuan 610073, China. 35590551@qq.com.
FAU - Gao, Chonglan
AU  - Gao C
FAU - Kang, Han
AU  - Kang H
FAU - Liu, Qingsong
AU  - Liu Q
LA  - chi
PT  - Case Reports
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  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Chromosome Fragile Sites
MH  - Karyotyping
MH  - Karyotype
MH  - *Infertility
EDAT- 2023/03/28 06:00
MHDA- 2023/03/29 06:05
CRDT- 2023/03/27 20:53
PHST- 2023/03/29 06:05 [medline]
PHST- 2023/03/27 20:53 [entrez]
PHST- 2023/03/28 06:00 [pubmed]
AID - 940640091 [pii]
AID - 10.3760/cma.j.cn511374-20220409-00237 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Apr 10;40(4):495-499. doi: 
      10.3760/cma.j.cn511374-20220409-00237.