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[Prenatal diagnosis and clinical analysis of two fetuses with Cat-eye syndrome]
Xiaoqing Wu1, Gang An, Deqin He
1Center of Prenatal Diagnosis,Fujian Provincial Maternity and Child Health Hospital, Fuzhou, Fujian 350001, China.
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.
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