PMID- 34839518
OWN - NLM
STAT- MEDLINE
DCOM- 20211130
LR  - 20211130
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 38
IP  - 12
DP  - 2021 Dec 10
TI  - [Genetic analysis of a fetus with mosaicism of structural aberration of Y 
      chromosome].
PG  - 1250-1253
LID - 10.3760/cma.j.cn511374-20201209-00861 [doi]
AB  - OBJECTIVE: To carry out genetic analysis and parental tracing for a fetus with an 
      inconclusive chromosomal karyotype. METHODS: The fetus and its parents were 
      subjected to combined chromosomal karyotyping, chromosomal microarray analysis 
      (CMA), fluorescence in situ hybridization (FISH) and multiplex PCR testing for Y 
      chromosome microdeletions. RESULTS: The fetus was found to have a karyotype of 
      45,X[18]/46,X,+mar[72]. CMA revealed that the fetus has carried a 2.6 Mb 
      duplication at Yp11.32p11.31 and a 44.5 Mb deletion at Yq11.21q12. Interphase 
      FISH of amniocytes confirmed the chromosomal mosaicism in the fetus, which has 
      derived from Y chromosome. Multiplex PCR revealed deletion of AZFb and AZFc 
      regions on the Y chromosome. No karyotypic abnormality was found with either 
      parent at 400-band level. CONCLUSION: Combined genetic analysis has delineated 
      the aberrant karyotype in the fetus, which has facilitated prediction of its 
      clinical phenotype and genetic counseling.
FAU - Xing, Huanxia
AU  - Xing H
AD  - Langfang Maternal and Child Health Care Hospital, Hebei 065000, China. 
      xinghuanxia2006@163.com.
FAU - Yang, Kai
AU  - Yang K
LA  - chi
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  - Chromosomes, Human, Y/genetics
MH  - Female
MH  - Fetus
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotype
MH  - *Mosaicism
MH  - Pregnancy
MH  - *Prenatal Diagnosis
EDAT- 2021/11/29 06:00
MHDA- 2021/12/01 06:00
CRDT- 2021/11/28 21:16
PHST- 2021/11/28 21:16 [entrez]
PHST- 2021/11/29 06:00 [pubmed]
PHST- 2021/12/01 06:00 [medline]
AID - 940638260 [pii]
AID - 10.3760/cma.j.cn511374-20201209-00861 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Dec 10;38(12):1250-1253. doi: 
      10.3760/cma.j.cn511374-20201209-00861.