ArticleEuropean journal of human genetics : EJHG2012
A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family.
Article in European journal of human genetics : EJHG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 62 citations in OpenAlex.
- Heterozygous CECR2 variants support a distinct neurodevelopmental syndrome with features overlapping cat eye syndrome.HGG advances · 2026Article
- Diagnostic yield of chromosomal microarray to examine the genetic factors associated with fetal aberrant right subclavian artery.Archives of gynecology and obstetrics · 2025Article
- Clinical and molecular cytogenetic findings of cat eye syndrome and a 2-year-old patient with congenital aural atresia and hearing loss.BMC pediatrics · 2024Review
- Article
- Cat eye syndrome caused by 22q11.1q11.21 duplication: case report in a Chinese family.Molecular cytogenetics · 2023Article
- Auricular fistula: a review of its clinical manifestations, genetics, and treatments.Journal of molecular medicine (Berlin, Germany) · 2023Review
- A new association of Oculoauriculovertebral spectrum and persistent fifth aortic arch -double lumen aorta: a case report.BMC pediatrics · 2022Article
- Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors.JCI insight · 2022Article
- Cecr2 mutant mice as a model for human cat eye syndrome.Scientific reports · 2021Article
- Article
- Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Origin-Dependent Inverted-Repeat Amplification: Tests of a Model for Inverted DNA Amplification.PLoS genetics · 2015Article
- Severe psychomotor delay in a severe presentation of cat-eye syndrome.Case reports in genetics · 2015Article
- A de novo atypical ring sSMC(22) characterized by array CGH in a boy with cat-eye syndrome.Molecular cytogenetics · 2014Article
- Clinical geneticists' views of VACTERL/VATER association.American journal of medical genetics. Part A · 2012Review
- A de novo sSMC(22) Characterized by High-Resolution Arrays in a Girl with Cat-Eye Syndrome without Coloboma.Molecular syndromology · 2012Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cat eye syndrome (CES) is caused by a gain of the proximal part of chromosome 22. Usually, a supernumerary marker chromosome is present, containing two extra copies of the chromosome 22q11.1q11.21 region. More sporadically, the gain is present intrachromosomally. The critical region for CES is currently estimated to be about 2.1 Mb and to contain at least 14 RefSeq genes. Gain of this region may cause ocular coloboma, preauricular, anorectal, urogenital and congenital heart malformations. We describe a family in which a 600 kb intrachromosomal triplication is present in at least three generations. The copy number alteration was detected using MLPA and further characterized with interphase and metaphase FISH and SNP-array. The amplified fragment is located in the distal part of the CES region. The family members show anal atresia and preauricular tags or pits, matching part of the phenotype of this syndrome. This finding suggests that amplification of the genes CECR2, SLC25A18 and ATP6V1E1, mapping within the critical region for CES, may be responsible for anorectal, renal and preauricular anomalies in patients with CES.
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