PMID- 34365625
OWN - NLM
STAT- MEDLINE
DCOM- 20210810
LR  - 20210810
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 38
IP  - 8
DP  - 2021 Aug 10
TI  - [Prenatal diagnosis of a rare case with de novo partial 21q(21q22.1--> qter) 
      trisomy syndrome and absent nasal bone].
PG  - 783-786
LID - 10.3760/cma.j.cn511374-20200814-00601 [doi]
AB  - OBJECTIVE: To carry out prenatal diagnosis for a fetus with absent nasal bone by 
      using cytogenetic and molecular techniques. METHODS: Chromosomal karyotyping, 
      single nucleotide polymorphism array (SNP-array) and fluorescence in situ 
      hybridization (FISH) assays were applied for the diagnoses. Peripheral blood 
      samples were also taken from the parents for chromosomal karyotyping and FISH 
      analysis. RESULTS: The fetus was found to have a 46,XX,add(21)(p11.2) karyotype, 
      and SNP-array has revealed a 11.3 Mb duplication at 21q22.12q22.3 (hg19: 36 762 
      648-48 093 361), which was confirmed by FISH. Both parents were found to be 
      normal by chromosomal karyotyping and FISH analysis. The fetus was ultimately 
      found to have a karyotype of 46,XX,der(21)t(21;21)(p11.2;q22.1), resulting a de 
      novo partial trisomy of 21q22.1. CONCLUSION: Combined use of various techniques 
      has enabled accurate prenatal diagnosis and genetic counseling for the fetus.
FAU - Chen, Jiayan
AU  - Chen J
AD  - Center for Prenatal Diagnosis, Xiamen Maternity and Child Health Care Hospital, 
      Xiamen, Fujian 361003, China. gshee@163.com.
FAU - Sheng, Nan
AU  - Sheng N
FAU - Cai, Meijiao
AU  - Cai M
FAU - Ge, Yunsheng
AU  - Ge Y
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  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - *Nasal Bone
MH  - Pregnancy
MH  - Prenatal Diagnosis
MH  - *Trisomy/genetics
EDAT- 2021/08/09 06:00
MHDA- 2021/08/11 06:00
CRDT- 2021/08/08 21:04
PHST- 2021/08/08 21:04 [entrez]
PHST- 2021/08/09 06:00 [pubmed]
PHST- 2021/08/11 06:00 [medline]
AID - 940638163 [pii]
AID - 10.3760/cma.j.cn511374-20200814-00601 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Aug 10;38(8):783-786. doi: 
      10.3760/cma.j.cn511374-20200814-00601.