PMID- 35810440
OWN - NLM
STAT- MEDLINE
DCOM- 20220712
LR  - 20220712
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 39
IP  - 7
DP  - 2022 Jul 10
TI  - [Mosaic trisomy 20: discrepancy between cyto-and molecular genetic technologies 
      in prenatal diagnosis].
PG  - 773-776
LID - 10.3760/cma.j.cn511374-20201013-00714 [doi]
AB  - OBJECTIVE: To provide genetic counseling and prenatal diagnosis for a fetus with 
      mosaic trisomy 20. METHODS: Chromosomal karyotyping, chromosomal microarray 
      analysis (CMA) and fluorescence in situ hybridization (FISH) were carried out for 
      a pregnant woman with advanced maternal age. RESULTS: The karyotype of amniotic 
      fluid sample was 47,XN,+20, whilst the result of CMA was normal. To verify this 
      discrepancy, CMA was performed again with the cultured amniotic fluid, which 
      yielded a result of 47,XN,+20. FISH assay of the amniotic fluid sample was nuc 
      ish(D20Z1)x3[11]/(D20Z1)x2[89], which indicated that about 11% of fetal cells 
      were trisomy 20. After the fetus was born, the karyotype of peripheral blood 
      sample was normal. CONCLUSION: The amniotic fluid sample might be mosaic trisomy 
      20, and a dominant growth of 47,XN,+20 cells had occurred during the culture 
      process, resulting in alteration of amniotic fluid cell composition. Mosaic 
      trisomy 20 indicated by FISH may be attributed to confined placental mosaicism or 
      somatic mosaicism of trisomy 20.
FAU - Jin, Chunyan
AU  - Jin C
AD  - Department of Medical Genetics and Prenatal Diagnosis, Taizhou People's Hospital, 
      Taizhou, Jiangsu 225300, China. gupingpingjiajia@sina.com.
FAU - Xu, Tianhui
AU  - Xu T
FAU - Chen, Jiao
AU  - Chen J
FAU - Li, Xuefang
AU  - Li X
FAU - Gu, Zhiping
AU  - Gu Z
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
RN  - Chromosome 20, trisomy
SB  - IM
MH  - *Amniocentesis/methods
MH  - Amniotic Fluid
MH  - Chromosomes, Human, Pair 20
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Molecular Biology
MH  - *Mosaicism
MH  - Placenta
MH  - Pregnancy
MH  - Prenatal Diagnosis/methods
MH  - Trisomy/diagnosis/genetics
EDAT- 2022/07/11 06:00
MHDA- 2022/07/14 06:00
CRDT- 2022/07/10 13:59
PHST- 2022/07/10 13:59 [entrez]
PHST- 2022/07/11 06:00 [pubmed]
PHST- 2022/07/14 06:00 [medline]
AID - 940639151 [pii]
AID - 10.3760/cma.j.cn511374-20201013-00714 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jul 10;39(7):773-776. doi: 
      10.3760/cma.j.cn511374-20201013-00714.