Prenatal diagnosis and clinical analysis of two fetuses with Cat-eye syndrome.
10.3760/cma.j.issn.1003-9406.2019.05.021
- VernacularTitle:猫眼综合征的产前诊断及临床分析
- Author:
Xiaoqing WU
1
;
Gang AN
;
Deqin HE
;
Qingmei SHEN
;
Meiying CAI
;
Hailong HUANG
;
Yuan LIN
;
Liangpu XU
Author Information
1. Center of Prenatal Diagnosis,Fujian Provincial Maternity and Child Health Hospital, Fuzhou, Fujian 350001, China. Email: ipxiu304@126.com.
- Publication Type:Journal Article
- MeSH:
Aneuploidy;
Chromosome Disorders;
diagnosis;
Chromosomes, Human, Pair 22;
Eye Abnormalities;
diagnosis;
Female;
Fetus;
Humans;
In Situ Hybridization, Fluorescence;
Karyotyping;
Pregnancy;
Prenatal Diagnosis
- From:
Chinese Journal of Medical Genetics
2019;36(5):498-501
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To determine the origin of supernumerary small marker chromosomes (sSMCs) carried by two fetuses.
METHODS:Single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) analysis were carried out on cells cultured from the amniotic fluid samples.
RESULTS:SNP-array analysis showed both fetuses to be arr[hg19]22q11.1q11.21(16 888 899-18 649 190)×4, with a duplicated 1.7 Mb region (16 888 899-18 649 190) leading to partial tetrasomy of 22q11.1-22q11.21. FISH confirmed that both fetuses were 47,XN,+mar.ish idic(22)(q11.2) (RP11-958H20 ++),which suggested a diagnosis of Cat-eye syndrome (CES). The appearance of abortuses were consistent with the diagnosis of CES.
CONCLUSION:Two fetuses with CES were diagnosed by genetic testing. The latter has provided a basis for genetic counseling.
