PMID- 28777861
OWN - NLM
STAT- MEDLINE
DCOM- 20171205
LR  - 20171205
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 34
IP  - 4
DP  - 2017 Aug 10
TI  - [Genotype and phenotype analysis of a child with partial 18q deletion syndrome].
PG  - 567-570
LID - 10.3760/cma.j.issn.1003-9406.2017.04.022 [doi]
AB  - OBJECTIVE: To explore the genotype-phenotype correlation of a child with 
      chromosome 18q deletion syndrome. METHODS: G-banded karyotyping, single 
      nucleotide polymorphism array (SNP array) and fluorescence in situ hybridization 
      (FISH) were performed on the child with abnormal phenotypes. Genotype-phenotype 
      correlation was explored following accurate mapping of the breakpoints on 
      chromosome 18q. SNP array was also performed on the genome DNA derived from 
      peripheral venous blood samples from both parents. RESULTS: Chromosomal analysis 
      revealed that the child has a karyotype of 46, XY, del(18) (q23). SNP array 
      analysis detected a 9.855 Mb deletion (chr18: 68 158 880-78 014 123) at 
      18q22.2q23. Mapping of the breakpoints suggested that the deletion has overlapped 
      with that of distal chromosome 18q deletion syndrome and encompassed several 
      critical regions for this syndrome. SNP array performed on parental samples 
      suggested that the 18q22.2q23 deletion was de novo in origin. FISH analysis of 
      peripheral blood sample from the child confirmed the presence of 18qter deletion. 
      CONCLUSION: The phenotype of this child may be attributed to the deletion of 
      distal 18q22.2q23, which has encompassed several critical regions for the 18q 
      deletion syndrome.
FAU - Shi, Shanshan
AU  - Shi S
AD  - Fetal Medicine Center, First Affiliated Hospital of Jinan University, Guangzhou, 
      Guangdong 510630, China. yolandaxixi@hotmail.com.
FAU - Guo, Li
AU  - Guo L
FAU - Zha, Qingbing
AU  - Zha Q
FAU - Shi, Zijian
AU  - Shi Z
FAU - Yang, Yandong
AU  - Yang 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  - Chromosome 18 deletion syndrome
SB  - IM
MH  - Chromosome Deletion
MH  - Chromosome Disorders/*genetics
MH  - Chromosomes, Human, Pair 18/genetics
MH  - Genetic Association Studies/methods
MH  - Genotype
MH  - Humans
MH  - Infant
MH  - Phenotype
MH  - Polymorphism, Single Nucleotide/*genetics
EDAT- 2017/08/05 06:00
MHDA- 2017/12/06 06:00
CRDT- 2017/08/05 06:00
PHST- 2017/08/05 06:00 [entrez]
PHST- 2017/08/05 06:00 [pubmed]
PHST- 2017/12/06 06:00 [medline]
AID - 940634116 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2017.04.022 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Aug 10;34(4):567-570. doi: 
      10.3760/cma.j.issn.1003-9406.2017.04.022.