PMID- 25297596
OWN - NLM
STAT- MEDLINE
DCOM- 20150212
LR  - 20141009
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 31
IP  - 5
DP  - 2014 Oct
TI  - [Genotype and phenotype study of two patients with 22q11.2 deletion syndrome].
PG  - 623-7
LID - 10.3760/cma.j.issn.1003-9406.2014.01.019 [doi]
AB  - OBJECTIVE: To carry out genetic analysis for two patients affected with 
      congenital heart disease, developmental delay with or without cleft palate. 
      METHODS: Cytogenetic and molecular genetic methods including karyotyping, 
      fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe 
      amplification (MLPA) and single nucleotide polymorphisms array (SNP-array) were 
      employed to detect potential mutations. For parents of both patients, MLPA was 
      used to analyze whether they were carrier of the deletion. RESULTS: For neither 
      patient, no abnormality was detected upon karyotype analysis. However, FISH 
      analysis has indicated the presence of 22q11.2 deletion. SNP-array analysis has 
      confirmed that both patients have carried a 2.5 Mb deletion in the 22q11.2 
      region. MLPA analysis suggested none of the parents has carried the same 
      deletion. CONCLUSION: Although the phenotypes of our patients were not identical, 
      they were both diagnosed as 22q11.2 deletion syndrome by multiple methods. The 
      deletions in both cases were de novo in nature. Precise delineation of the 
      genotype can facilitate better understanding of the patients' phenotype.
FAU - Zhu, Haiyan
AU  - Zhu H
AD  - Prenatal Diagnosis Center, Department of Gynecology and Obstetrics, Navy General 
      Hospital, Beijing 100048, P.R.China. one_army@sina.com.
FAU - Wang, Aiming
AU  - Wang A
FAU - Zhang, Hairong
AU  - Zhang H
FAU - Ji, Chunyan
AU  - Ji C
FAU - Zhan, Xiaohua
AU  - Zhan X
LA  - chi
PT  - Case Reports
PT  - English Abstract
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
SB  - IM
MH  - Abnormalities, Multiple/*genetics/pathology
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 22/*genetics
MH  - DiGeorge Syndrome/*genetics/pathology
MH  - Ear, External/abnormalities
MH  - Genotype
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Male
MH  - Microarray Analysis/methods
MH  - Phenotype
MH  - Polymorphism, Single Nucleotide
MH  - Syndrome
EDAT- 2014/10/10 06:00
MHDA- 2015/02/13 06:00
CRDT- 2014/10/10 06:00
PHST- 2014/10/10 06:00 [entrez]
PHST- 2014/10/10 06:00 [pubmed]
PHST- 2015/02/13 06:00 [medline]
AID - 940631133 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2014.01.019 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Oct;31(5):623-7. doi: 
      10.3760/cma.j.issn.1003-9406.2014.01.019.