PMID- 28604963
OWN - NLM
STAT- MEDLINE
DCOM- 20170914
LR  - 20170914
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 34
IP  - 3
DP  - 2017 Jun 10
TI  - [Phenotypic and genotypic analysis of a fetus carrying an intermediate 22q11.2 
      deletion encompassing the CRKL gene].
PG  - 393-397
LID - 10.3760/cma.j.issn.1003-9406.2017.03.018 [doi]
AB  - OBJECTIVE: To delineate the phenotypic characteristics of 22q11.2 deletion 
      syndrome and the role of CRKL gene in the pathogenesis of cardiac abnormalities. 
      METHODS: G-banded karyotyping, single nucleotide polymorphism (SNP) array and 
      fluorescence in situ hybridization (FISH) were performed on a fetus with 
      tetralogy of Fallot detected by ultrasound. Correlation between the genotype and 
      phenotype was explored after precise mapping of the breakpoints on chromosome 
      22q11.2. SNP array was also performed on peripheral blood samples from both 
      parents to clarify its origin. RESULTS: The fetus showed a normal karyotype of 
      46,XY. SNP array performed on fetal blood sample revealed a 749 kb deletion 
      (chr22: 20 716 876-21 465 659) at 22q11.21, which encompassed the CRKL gene but 
      not TBX1, HIRA, COMT and MAPK1. Precise mapping of the breakpoints suggested that 
      the deleted region has overlapped with that of central 22q11.2 deletion syndrome. 
      SNP array analysis of the parental blood samples suggested that the 22q11.21 
      deletion has a de novo origin. The presence of 22q11.21 deletion in the fetus was 
      also confirmed by FISH analysis. CONCLUSION: Central 22q11.21 deletion probably 
      accounts for the cardiac abnormalities in the fetus, for which the CRKL gene 
      should be considered as an important candidate.
FAU - Lin, Shaobin
AU  - Lin S
AD  - Fetal Medicine Center, the First Affiliated Hospital of Sun Yat-sen University, 
      Guangzhou, Guangdong 510080, China. 21014794@qq.com.
FAU - Zheng, Xiaohe
AU  - Zheng X
FAU - Gu, Heng
AU  - Gu H
FAU - Li, Mingzhen
AU  - Li M
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  - 0 (Adaptor Proteins, Signal Transducing)
RN  - 0 (CRKL protein)
RN  - 0 (Nuclear Proteins)
SB  - IM
MH  - Adaptor Proteins, Signal Transducing/*genetics
MH  - Adult
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 22/*genetics
MH  - DiGeorge Syndrome/diagnosis/embryology/*genetics
MH  - Female
MH  - Fetal Diseases/diagnosis/*genetics
MH  - Genotype
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Nuclear Proteins/*genetics
MH  - Phenotype
MH  - Pregnancy
MH  - Prenatal Diagnosis
EDAT- 2017/06/13 06:00
MHDA- 2017/09/15 06:00
CRDT- 2017/06/13 06:00
PHST- 2017/06/13 06:00 [entrez]
PHST- 2017/06/13 06:00 [pubmed]
PHST- 2017/09/15 06:00 [medline]
AID - 940634079 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2017.03.018 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Jun 10;34(3):393-397. doi: 
      10.3760/cma.j.issn.1003-9406.2017.03.018.