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A De Novo sSMC (22) Characterized by High-Resolution Chromosome Microarray Analysis in a Chinese Boy with Cat-Eye Syndrome
- Source :
- Case Reports in Genetics, Vol 2021 (2021)
- Publication Year :
- 2021
- Publisher :
- Wiley, 2021.
-
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.
Details
- Language :
- English
- ISSN :
- 20906544 and 20906552
- Volume :
- 2021
- Database :
- Directory of Open Access Journals
- Journal :
- Case Reports in Genetics
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.335a64cf389496da67d03c6daa2e223
- Document Type :
- article
- Full Text :
- https://doi.org/10.1155/2021/8824184