Cat eye syndrome caused by 22q11.1q11.21 duplication: case report in a Chinese family

Molecular Cytogenetics

Case Report

Yanan Wang¹  Pai Zhang¹  Yuqiong Chai¹  Weiwei Zang¹ 

[1] Department of Genetics and Prenatal Diagnosis, Luoyang Maternal and Child Health Hospital, No. 206 Tongqu Road, Luolong District, 471000, Luoyang, Henan Province, China;

关键词: Cat eye syndrome;    Chromosome 22;    22q11.1q11.21 duplication;    Supernumerary small marker chromosomes;    CNV-seq;   

DOI  :  10.1186/s13039-023-00660-2

 received in 2023-07-10, accepted in 2023-10-12,  发布年份 2023

来源: Springer

【 摘 要 】

Purpose This paper presents a report on two uncommon instances of cat eye syndrome in a Chinese family.Case presentationThe proband, a 23-year-old female, exhibited a diminutive cornea and complete blindness in her right eye, and the uncorrected distance visual acuity of her left eye was 0.7 LogMAR. Peripheral blood chromosome karyotyping reveal a karyotype of 47, XX, + mar. Subsequent analysis of chromosome copy number variation unveiled a 1.5 Mb duplication in the 22q11.1q11.21 region of the proband. The proband's mother,aged 49, displayed small eyes, wide-set eyes, downward slanting eyelids, and congenital heart disease. Chromosome copy number variation analysis also showed a 1.55 Mb duplication in the 22q11.1q11.21 region of chromosome 22 in the proband's mother. Ultimately, both members of this family were diagnosed with cat eye syndrome.Conclusion Cat eye syndrome is a rare genetic disorder that greatly affects patients' lives and requires personalized treatment. This study provides new evidence for a better understanding of the diagnosis of cat eye syndrome and emphasizes the importance of genetic counseling and supervision.

【 授权许可】

CC BY   
© BioMed Central Ltd., part of Springer Nature 2023

【 图 表 】

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