PMID- 33306829
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 a fetus with Phelan-McDermid syndrome and 21q21 
      microdeletion by multiple genetic techniques].
PG  - 1387-1390
LID - 10.3760/cma.j.cn511374-20200303-00123 [doi]
AB  - OBJECTIVE: To carry out prenatal diagnose for a fetus with ultrasonography 
      abnormalities using multiple genetic techniques. METHODS: Routine G-banding 
      chromosomal analysis and single nucleotide polymorphism array (SNP-array) were 
      applied in conjunction for the prenatal diagnosis of the fetus. The result was 
      confirmed by fluorescence in situ hybridization (FISH). RESULTS: SNP-array 
      detected that the fetus has carried a hemizygous 5.1 Mb deletion at 
      22q13.31q13.33, which is associated with Phelan-McDermid syndrome, and a 
      hemizygous 4.5 Mb deletion at 21q21.1q21.2. FISH analysis of the fetus and its 
      parents suggested that both deletions were de novo in origin. CONCLUSION: The 
      hemizygous deletions on 21q21.1q21.2 and 22q13.31q13.33 probably underlay the 
      abnormal phenotype of the fetus. Genetic analysis can provide crucial information 
      for the prenatal diagnosis and genetic counseling.
FAU - Shen, Huaxiang
AU  - Shen H
AD  - Jiaxing Maternal and Child Health Care Hospital, Jiaxing College, Jiaxing, 
      Zhejiang 314050,China. jyx0805@163.com.
FAU - Li, Suping
AU  - Li S
FAU - Jin, Yuxia
AU  - Jin 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
RN  - Telomeric 22q13 Monosomy Syndrome
SB  - IM
MH  - Chromosome Deletion
MH  - Chromosome Disorders/genetics
MH  - Chromosomes, Human, Pair 21/genetics
MH  - Chromosomes, Human, Pair 22/genetics
MH  - Female
MH  - Fetus
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Polymorphism, Single Nucleotide
MH  - Pregnancy
MH  - *Prenatal Diagnosis
MH  - *Sequence Deletion/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 - 940637257 [pii]
AID - 10.3760/cma.j.cn511374-20200303-00123 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Dec 10;37(12):1387-1390. doi: 
      10.3760/cma.j.cn511374-20200303-00123.