PMID- 33306818
OWN - NLM
STAT- MEDLINE
DCOM- 20210105
LR  - 20210105
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 37
IP  - 12
DP  - 2020 Dec 10
TI  - [Prenatal diagnosis of three fetuses with small supernumerary marker 
      chromosomes].
PG  - 1344-1348
LID - 10.3760/cma.j.cn511374-20190919-00481 [doi]
AB  - OBJECTIVE: To explore the origin and mechanism of small supernumerary marker 
      chromosomes (sSMC) in three fetuses. METHODS: The three fetuses were predicted to 
      have carried chromosomal abnormalities by non-invasive prenatal testing (NIPT). 
      G-banding chromosomal karyotyping analysis were carried out on amniotic fluid 
      samples of the fetuses and peripheral blood samples from their parents. Single 
      nucleotide polymorphism array (SNP-array) was used to determine the origin, size 
      and genetic effect of sSMCs. RESULTS: In fetus 1, SNP array has detected two 
      microduplications respectively at 4p16.3p15.2 (24.7 Mb) and 18p11.32q11.2 (20.5 
      Mb) which, as verified by fluorescence in situ hybridization (FISH), have derived 
      from a balanced 46,XY,t(4;18)(p15.2q11.2) translocation carried by its father. 
      Fetus 2 has carried a de novo microduplication of 15q11.2-q13.3 (9.7 Mb). The 
      sequence of SMC in fetus 3 has derived from 21q11.2-q21.1 (8.3 Mb), which was 
      inherited from its mother. CONCLUSION: Both NIPT and SNP-array are highly 
      accurate for the detection of sSMC. SNP-array can delineate the origin and size 
      of abnormal chromosomes, which in turn can help with clarification of 
      sSMC-related genotype-phenotype correlation and facilitate prenatal diagnosis and 
      genetic counseling for the family.
FAU - Li, Wenwen
AU  - Li W
AD  - Prenatal Diagnosis Center, Huzhou Women and Children's Health Care Hospital, 
      Huzhou, Zhejiang 313000, China. shenguosong11@163.com.
FAU - Fang, Rong
AU  - Fang R
FAU - Shen, Xueping
AU  - Shen X
FAU - Yao, Juan
AU  - Yao J
FAU - Xue, Jianying
AU  - Xue J
FAU - Shen, Guosong
AU  - Shen G
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 Duplication/genetics
MH  - Female
MH  - Fetus
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Polymorphism, Single Nucleotide
MH  - Pregnancy
MH  - *Prenatal Diagnosis
MH  - Translocation, Genetic/genetics
EDAT- 2020/12/12 06:00
MHDA- 2021/01/06 06:00
CRDT- 2020/12/11 17:09
PHST- 2020/12/11 17:09 [entrez]
PHST- 2020/12/12 06:00 [pubmed]
PHST- 2021/01/06 06:00 [medline]
AID - 940637246 [pii]
AID - 10.3760/cma.j.cn511374-20190919-00481 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Dec 10;37(12):1344-1348. doi: 
      10.3760/cma.j.cn511374-20190919-00481.