A patient with Prader-Willi syndrome and a supernumerary marker chromosome r(15)(q11.1-13p11.1)pat and maternal heterodisomy
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference25 articles.
1. editors. 1992. Chromosome staining and banding techniques. Vol. 1. Oxford, Washington DC: IRL Press. pp 91-118.
2. FISH characterization of small supernumerary marker chromosomes in two Prader-Willi patients
3. Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization
4. The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders
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2. Infantile spasms in a mosaic monocentric and duplicated SMC 15 patient;Brain and Development;2018-11
3. Constitutional chromosome abnormalities;The AGT Cytogenetics Laboratory Manual;2017-03-04
4. Does parent of origin matter? Methylation studies should be performed on patients with multiple copies of the Prader-Willi/Angelman syndrome critical region;American Journal of Medical Genetics Part A;2014-06-26
5. Ophthalmic Treatment and Vision Care of a Patient with Rare Ring Chromosome 15: A Case Report;Case Reports in Pediatrics;2014
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