PMID- 27455007
OWN - NLM
STAT- MEDLINE
DCOM- 20160922
LR  - 20160726
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 33
IP  - 4
DP  - 2016 Aug
TI  - [A case of Wolf-Hirschhorn syndrome diagnosed by single nucleotide polymorphism 
      array].
PG  - 501-4
LID - 10.3760/cma.j.issn.1003-9406.2016.04.016 [doi]
AB  - OBJECTIVE: To explore the genetic causes for a child with multiple congenital 
      malformations and epilepsy through analysis of copy number variations, and to 
      correlate the genotype with the phenotype. METHODS: G-banding karyotyping was 
      performed on the child and her parents. Single nucleotide polymorphisms array 
      (SNP-array) was used to map the exact chromosomal breakpoints in the proband. The 
      result was validated with fluorescence in situ hybridization (FISH). RESULTS: G 
      banding analysis suggested that the proband had a karyotype of 46,XX,del(4)(p15), 
      while both of his parents had a normal karyotype. SNP-array has identified a 
      hemizygous deletion of 13.3 Mb on chromosome 4p16.3p15.33, which has been 
      implicated in Wolf-Hirschhorn syndrome. FISH assay has confirmed the de novo 
      origin of the deletion, with the karyotype and clinical phenotype of both parents 
      taken into consideration. CONCLUSION: A case of Wolf-Hirschhorn syndrome has been 
      diagnosed by clinical manifestation and karyotyping analysis. Compared with 
      conventional karyotyping analysis, SNP-array has greater resolution and accuracy, 
      and can provide useful information for genetic counseling.
FAU - Jin, Yuxia
AU  - Jin Y
AD  - Center for Prenatal Diagnosis, Maternity and Child Health Hospital, Jiaxing, 
      Zhejiang 314000, China. Email: mzy2005@hotmail.com.
FAU - Liu, Xia
AU  - Liu X
FAU - Li, Suping
AU  - Li S
FAU - Zhou, Chiyan
AU  - Zhou C
FAU - Liu, Xiaodan
AU  - Liu X
FAU - Song, Qinhao
AU  - Song Q
FAU - Wang, Luming
AU  - Wang L
FAU - Miao, Zhengyou
AU  - Miao Z
LA  - chi
PT  - Case Reports
PT  - English Abstract
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
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 Banding
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Oligonucleotide Array Sequence Analysis
MH  - *Polymorphism, Single Nucleotide
MH  - Wolf-Hirschhorn Syndrome/*genetics
EDAT- 2016/07/28 06:00
MHDA- 2016/09/23 06:00
CRDT- 2016/07/26 06:00
PHST- 2016/07/26 06:00 [entrez]
PHST- 2016/07/28 06:00 [pubmed]
PHST- 2016/09/23 06:00 [medline]
AID - 940632102 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2016.04.016 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Aug;33(4):501-4. doi: 
      10.3760/cma.j.issn.1003-9406.2016.04.016.