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Date Published: 17/02/2023
Abstract Views: 208
Views PDF: 124
DOI: https://doi.org/10.51298/vmj.v520i2.4140
Issue
Vol. 520 No. 2 (2022)
Section
Các bài báo
How to Cite
Nguyễn, X. A. D., Ngô, D. N. ., An, T. L., & Lương, T. L. A. (2023). CAT-EYE SYNDROME - A CLINICAL CASE REPORT. Vietnam Medical Journal, 520(2). https://doi.org/10.51298/vmj.v520i2.4140

CAT-EYE SYNDROME - A CLINICAL CASE REPORT

Xuân Anh Duy Nguyễn1, Diễm Ngọc Ngô1,2, Thùy Lan An1,2, Thị Lan Anh Lương3,4,
1 Hanoi medical university
2 Vietnam National Children's Hospital
3 Hanoimedicla university
4 Hanoi medical university hospital

Main Article Content

Abstract

Cat-eye syndrome (CES) is one of the rare genetic syndromes caused by patients carrying 3 or 4 segments of chromosome 22q11.2. The incidence of the syndrome is 1/50,000 - 1/150,000 live births. Cat-eye syndrome has a very diverse and complex clinical manifestation that affects many different organs of the body. In Vietnam, there are not many studies on this syndrome. Our research reports a case of a 6-month-old female infant with Cat-eye syndrome which carries 3 segments of chromosome 22q11.2 with a multi-defect clinical manifestation (abnormal face, mental retardation, congenital heart defects). This patient is diagnosed with cell genetic test and molecular genetic test at National Hospital of Pediatrics.

Article Details

Keywords

Cat-eye syndrome, congenital abnormalities

References

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