PMID- 33974260
OWN - NLM
STAT- MEDLINE
DCOM- 20210513
LR  - 20220531
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 38
IP  - 5
DP  - 2021 May 10
TI  - [Genetic analysis of a fetus with partial 18p deletion].
PG  - 477-480
LID - 10.3760/cma.j.cn511374-20200417-00278 [doi]
AB  - OBJECTIVE: To carry out prenatal diagnosis for a fetus with partial 18p deletion 
      detected by non-invasive prenatal testing (NIPT). METHODS: Peripheral blood and 
      amniotic fluid samples of the pregnant woman and her husband were subjected to 
      G-banded chromosomal karyotyping and more accurate chromosomal microarray 
      analysis (CMA). The deletion sites were verified by fluorescence in situ 
      hybridization (FISH) using centromeric probe Cep11 Aqua and telomeric probes 
      Tel11q SO and Tel18 SG. RESULTS: The karyotype of the fetus was determined as 
      46,XN,del(18)(p11.3). CMA has detected a 6.66 Mb deletion at 18p11.32-p11.31 (136 
      226-6 796 178). FISH confirmed the presence of a partial deletion at 18p. The 
      mother was found to harbor the same deletion by chromosomal karyotyping as well 
      as CMA analysis. No abnormality was found with the husband. CONCLUSION: Although 
      the fetus and its mother have both carried the same 18p deletion, no clinical 
      manifestation was detected in the mother, which may be attributed to a low 
      penetrance of the disorder. The fetus had died at 33 weeks of gestation with 
      unknown cause.
FAU - Chen, Xuejun
AU  - Chen X
AD  - Reproductive Center of Taizhou Hospital, Taizhou, Zhejiang 317000, China. 
      zhangwgtzhospital@163.com.
FAU - Zhu, Yuanzhen
AU  - Zhu Y
FAU - Zhang, Weiguo
AU  - Zhang W
FAU - Yan, Weihua
AU  - Yan W
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
SB  - IM
MH  - *Chromosome Deletion
MH  - Female
MH  - Fetus
MH  - *Genetic Testing
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Pregnancy
MH  - Prenatal Diagnosis
EDAT- 2021/05/12 06:00
MHDA- 2021/05/14 06:00
CRDT- 2021/05/11 12:28
PHST- 2021/05/11 12:28 [entrez]
PHST- 2021/05/12 06:00 [pubmed]
PHST- 2021/05/14 06:00 [medline]
AID - 940638100 [pii]
AID - 10.3760/cma.j.cn511374-20200417-00278 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 May 10;38(5):477-480. doi: 
      10.3760/cma.j.cn511374-20200417-00278.