PMID- 32924128
OWN - NLM
STAT- MEDLINE
DCOM- 20201119
LR  - 20201119
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 37
IP  - 10
DP  - 2020 Oct 10
TI  - [Prenatal genetic diagnosis of a partial 21 trisomy fetus with nasal bone 
      dysplasia].
PG  - 1172-1175
LID - 10.3760/cma.j.cn511374-20190605-00282 [doi]
AB  - OBJECTIVE: To explore the nature of chromosomal abnormality in a fetus with nasal 
      bone dysplasia and clarify its clinical effect. METHODS: Fetal chromosome 
      karyotype was analyzed by G-banding. Single nucleotide polymorphism array 
      (SNP-array) was used to detect the chromosomal copy number variations, and 
      fluorescence in situ hybridization (FISH) was used to verify the result. RESULTS: 
      Fetal karyotype analysis showed an unknown chromosomal fragment in 21q21 region. 
      SNP-array discovered a 7.5 Mb duplication in the 21q22.12q22.3 region. FISH 
      confirmed that the unknown fragment was derived from a 21q22.12q22.3 duplication. 
      CONCLUSION: Combined use of karyotype analysis, SNP-array and FISH has clarified 
      the nature of chromosomal abnormality in a fetus with nasal bone dysplasia, which 
      has enabled more accurate prenatal diagnosis and genetic counseling.
FAU - Zhang, Jian
AU  - Zhang J
AD  - Women and Children's Hospital Affiliated to Xiamen University, Central Laboratory 
      of Xiamen Maternal and Child Health Care Hospital, Xiamen, Fujian 361003, China. 
      gshee@163.com.
FAU - Chen, Xiaolu
AU  - Chen X
FAU - Jiang, Yu
AU  - Jiang Y
FAU - Wang, Wenbo
AU  - Wang W
FAU - Cai, Meijiao
AU  - Cai M
FAU - Kong, Hui
AU  - Kong H
FAU - Ge, Yunsheng
AU  - Ge Y
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  - Bone Diseases, Developmental/diagnosis/*genetics
MH  - Chromosomes, Human, Pair 21
MH  - DNA Copy Number Variations
MH  - Female
MH  - Fetus
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Polymorphism, Single Nucleotide
MH  - Pregnancy
MH  - *Prenatal Diagnosis
MH  - *Trisomy/diagnosis/genetics
EDAT- 2020/09/15 06:00
MHDA- 2020/11/20 06:00
CRDT- 2020/09/14 05:58
PHST- 2020/09/14 05:58 [entrez]
PHST- 2020/09/15 06:00 [pubmed]
PHST- 2020/11/20 06:00 [medline]
AID - 940637246 [pii]
AID - 10.3760/cma.j.cn511374-20190605-00282 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Oct 10;37(10):1172-1175. doi: 
      10.3760/cma.j.cn511374-20190605-00282.