Mosaic cat eye syndrome in a child with unilateral iris coloboma
Author:
Affiliation:
1. Department of Genetics, Instituto Nacional de Rehabilitación, Mexico City, Mexico
2. Genetics Department, Asociación Para Evitar la Ceguera en México, Mexico City, Mexico
Publisher
Informa UK Limited
Subject
Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health
Link
https://www.tandfonline.com/doi/pdf/10.1080/13816810.2020.1839918
Reference15 articles.
1. Partial Tetrasomy of Chromosome 22q11.1 Resulting from a Supernumerary Isodicentric Marker Chromosome in a Boy with Cat-eye Syndrome
2. Duane syndrome associated with the Cat Eye syndrome: a case report
3. Rare otologic presentation of cat eye syndrome
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1. Cat eye syndrome caused by 22q11.1q11.21 duplication: case report in a Chinese family;Molecular Cytogenetics;2023-10-25
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3. Molecular delineation of de novo small supernumerary marker chromosomes in prenatal diagnosis, a retrospective study;Taiwanese Journal of Obstetrics and Gynecology;2023-01
4. Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome;Italian Journal of Pediatrics;2022-09-08
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