Prenatal diagnosis of the isodicentric chromosome 22 associated with cat eye syndrome by multiplex ligation-dependent probe amplification
Author:
Affiliation:
1. Genetic Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, Korea
2. Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University, Seoul, Korea
Publisher
Korean Society of Medical Genetics
Subject
General Medicine
Link
http://pdf.medrang.co.kr/JGM/2017/014/JGM014-01-09.pdf
Reference16 articles.
1. Atlas of Genetic Diagnosis and Counseling
2. Rosias PR, Sijstermans JM, Theunissen PM, Pulles-Heintzberger CF, De Die-Smulders CE, and Engelen JJ et al. Phenotypic variability of the cat eye syndrome. Case report and review of the literature. Genet Couns 2001;12:273-82.
3. A severe prenatal presentation of Cat Eye Syndrome
4. Partial Tetrasomy of Chromosome 22q11.1 Resulting from a Supernumerary Isodicentric Marker Chromosome in a Boy with Cat-eye Syndrome
5. Mears AJ, Duncan AM, Budarf ML, Emanuel BS, Sellinger B, and Siegel-Bartelt J et al. Molecular characterization of the marker chromosome associated with cat eye syndrome. Am J Hum Genet 1994;55:134-42.
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