Clinical and molecular cytogenetic findings of cat eye syndrome and a 2-year-old patient with congenital aural atresia and hearing loss

• Main Authors: Liang Xu (Author), Xia Cheng (Author), Lemin Tang (Author), Shengping Min (Author), Jiatao Wu (Author), Hongwei Zhu (Author), Yaping Liao (Author)
• Format: Book
• Published: BMC, 2024-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Cat eye syndrome (CES) is a rare congenital disease frequently caused by a partial tetrasomy of the proximal long (q) arm of chromosome 22, due to a small supernumerary marker chromosome (sSMC). CES patients show remarkable phenotypic variability. Despite the progress of molecula...