22q11.1q11.21重复引起的猫眼综合征：一个中国家庭的病例报告。

IF 1.3 4区生物学 Q4 GENETICS & HEREDITY Molecular Cytogenetics Pub Date : 2023-10-25 DOI:10.1186/s13039-023-00660-2

Yanan Wang, Pai Zhang, Yuqiong Chai, Weiwei Zang

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引用次数: 0

摘要

目的：本文报告一个中国家庭中两例罕见的猫眼综合征。病例介绍：先证者是一名23岁的女性，她的右眼角膜很小，完全失明，左眼的裸眼远视力为0.7 LogMAR。外周血染色体核型为47， + 随后对染色体拷贝数变异的分析揭示了先证者22q11.1q11.21区域的1.5Mb重复。先证者的母亲，49岁，眼睛小，眼睛宽，眼睑向下倾斜，患有先天性心脏病。染色体拷贝数变异分析还显示，先证者母亲的22号染色体22q11.1q11.21区域存在1.55Mb的重复。最终，这个家庭的两个成员都被诊断出患有猫眼综合征。结论：猫眼综合征是一种罕见的遗传性疾病，严重影响患者的生活，需要个性化治疗。这项研究为更好地理解猫眼综合征的诊断提供了新的证据，并强调了遗传咨询和监督的重要性。

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

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.

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来源期刊

Molecular Cytogenetics GENETICS & HEREDITY-

CiteScore

2.60

自引率

7.70%

发文量

审稿时长

>12 weeks

期刊介绍： Molecular Cytogenetics encompasses all aspects of chromosome biology and the application of molecular cytogenetic techniques in all areas of biology and medicine, including structural and functional organization of the chromosome and nucleus, genome variation, expression and evolution, chromosome abnormalities and genomic variations in medical genetics and tumor genetics. Molecular Cytogenetics primarily defines a large set of the techniques that operate either with the entire genome or with specific targeted DNA sequences. Topical areas include, but are not limited to: -Structural and functional organization of chromosome and nucleus- Genome variation, expression and evolution- Animal and plant molecular cytogenetics and genomics- Chromosome abnormalities and genomic variations in clinical genetics- Applications in preimplantation, pre- and post-natal diagnosis- Applications in the central nervous system, cancer and haematology research- Previously unreported applications of molecular cytogenetic techniques- Development of new techniques or significant enhancements to established techniques. This journal is a source for numerous scientists all over the world, who wish to improve or introduce molecular cytogenetic techniques into their practice.