PMID- 30703236
OWN - NLM
STAT- MEDLINE
DCOM- 20190826
LR  - 20190826
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 36
IP  - 2
DP  - 2019 Feb 10
TI  - [Analysis of a girl with Phelan-McDermid syndrome].
PG  - 154-156
LID - 10.3760/cma.j.issn.1003-9406.2019.02.015 [doi]
AB  - OBJECTIVE: To explore the value of single nucleotide polymorphism (SNP) array for 
      molecular diagnosis. METHODS: A Chinese girl suspected for Phelan-McDermid 
      syndrome was subjected to routine G-banding chromosomal analysis, SNP array, and 
      fluorescence in situ hybridization (FISH) assaying. RESULTS: G-banding karyotype 
      analysis has found no abnormality in the girl and her parents. SNP array detected 
      a heterozygous 2.1 Mb deletion at 22q13.33 in the girl, which was confirmed by 
      FISH. The same deletion was not found in either parent. FISH analysis found that 
      her father has carried a balance t(4;22) translocation. CONCLUSION: SNP-array has 
      the advantage of high resolution and accuracy, which is valuable for the 
      diagnosis of microdeletion or microduplication syndromes.
FAU - Zhao, Lijuan
AU  - Zhao L
AD  - Fetal Medicine Center, the Third Affiliated Hospital of Southern Medical 
      University, Guangzhou, Guangdong 510630, China. wbzs5319753@163.com.
FAU - Wan, Bo
AU  - Wan B
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
MH  - Chromosome Deletion
MH  - Chromosome Disorders
MH  - Chromosomes, Human, Pair 22
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - *Polymorphism, Single Nucleotide
EDAT- 2019/02/01 06:00
MHDA- 2019/08/27 06:00
CRDT- 2019/02/01 06:00
PHST- 2019/02/01 06:00 [entrez]
PHST- 2019/02/01 06:00 [pubmed]
PHST- 2019/08/27 06:00 [medline]
AID - 940636014 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2019.02.015 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Feb 10;36(2):154-156. doi: 
      10.3760/cma.j.issn.1003-9406.2019.02.015.