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Issue: Vol. 520 No. 2 (2022)
Section: Các bài báo
DOI: 10.51298/vmj.v520i2.4140
Date Published: 30/11/2022
Views 549
Downloads 347
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.

Keywords

Cat-eye syndrome, congenital abnormalities

Article Details

References

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