| Autor: |
Yanan Wang, Pai Zhang, Yuqiong Chai, Weiwei Zang |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
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| Zdroj: |
Molecular Cytogenetics, Vol 16, Iss 1, Pp 1-7 (2023) |
| Druh dokumentu: |
article |
| ISSN: |
1755-8166 |
| DOI: |
10.1186/s13039-023-00660-2 |
| Popis: |
Abstract Purpose This paper presents a report on two uncommon instances of cat eye syndrome in a Chinese family. Case presentation The 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. |
| Databáze: |
Directory of Open Access Journals |
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