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A De Novo sSMC (22) Characterized by High-Resolution Chromosome Microarray Analysis in a Chinese Boy with Cat-Eye Syndrome.

ABSTRACT: We report a 15-year-old boy with cat-eye syndrome (CES) without short stature or intellectual disorder. The boy was confirmed by cytogenetic and high-resolution chromosome microarray analysis (CMA). The G-banding karyotype confirmed the de novo of the patient. Also, the CMA result showed 1.76?Mb tetrasomy of proximal 22Q11.1???22Q11.21 consistent with CES {arr22q11.1q11.21 (16,888,899-18,644,241) X4}, a typical small type I CES chromosome. The patient has many of the basic characteristics of CES; however, he is taller than his peers instead of shorter. It is rarely reported in the past since short stature is a common feature of this syndrome. Furthermore, the boy has no intellectual disorder and attends a normal school since he was six-year-old. What bothered him most were recurrent respiratory infections, retromicrognathia, and heart defects.

SUBMITTER: Li J

PROVIDER: S-EPMC7937470 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature

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A De Novo sSMC (22) Characterized by High-Resolution Chromosome Microarray Analysis in a Chinese Boy with Cat-Eye Syndrome.

Li Jinjie J Zhang Yue Y Diao Yanjun Y Li Rui R Jiang Liqing L Zhou Lei L Liu Jiayun J Duan Weixun W Yang Liu L

Case reports in genetics 20210227

We report a 15-year-old boy with cat-eye syndrome (CES) without short stature or intellectual disorder. The boy was confirmed by cytogenetic and high-resolution chromosome microarray analysis (CMA). The G-banding karyotype confirmed the de novo of the patient. Also, the CMA result showed 1.76 Mb tetrasomy of proximal 22Q11.1 ⟶ 22Q11.21 consistent with CES {arr22q11.1q11.21 (16,888,899-18,644,241) X4}, a typical small type I CES chromosome. The patient has many of the basic characteristics of CES ...[more]

PMID: 33728075

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