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Article

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

BMC pediatrics - 14 Oct 2024

Xu Liang, Cheng Xia, Tang Lemin, Min Shengping, Wu Jiatao, Zhu Hongwei, Liao Yaping

Abstract excerpt

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 molecular cytogenetic technology, the cause of phenotypic variability and the genotype-phenotype correlations remain unknown....

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Identifiers

PMID: 39402511
DOI: 10.1186/s12887-024-05136-9
PMCID: PMC11472575

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