Affiliation:
1. Department of Laboratory Medicine, Xijing Hospital, Air Force Military Medical University, Xi’ an 710032, China
2. Department of Cardiovascular Surgery, Xijing Hospital, Air Force Military Medical University, Xi’an 710032, China
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.
Reference15 articles.
1. Duane syndrome associated with the Cat Eye syndrome: a case report
2. Phenotypic variability of the cat eye syndrome. Case report and review of the literature;P. R. Rosias;Genetic Counseling,2001
3. Phenotypic variability of Cat-Eye syndrome;M. J. Berends;Genetic Counseling,2001
4. CHROMOSOMES IN COLOBOMA AND ANAL ATRESIA