Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome
- 1 April 1994
- journal article
- case report
- Published by Springer Nature in Human Genetics
- Vol. 93 (4) , 471-473
- https://doi.org/10.1007/bf00201679
Abstract
No abstract availableKeywords
This publication has 11 references indexed in Scilit:
- Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndromeAmerican Journal of Medical Genetics, 1993
- Fluorescence in‐situ hybridisation and molecular studies used in the characterisation of a Robertsonian translocation (13q15q) in Prader‐Willi syndromeClinical Genetics, 1993
- Dinucleotide repeat polymorphism at the D15S11 locus in the Angelman/Prader—Willi region (AS/PWS) of chromosome 15Human Molecular Genetics, 1992
- Molecular and cytogenetic studies of the Prader-Willi syndrome.Journal of Medical Genetics, 1991
- Uniparental paternal disomy in Angelman's syndromeThe Lancet, 1991
- Chromosome 15 uniparental disomy is not frequent in Angelman syndrome.1991
- Comparison of the 15q deletions in Prader‐Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin, and clinical consequencesAmerican Journal of Medical Genetics, 1990
- Angelman and Prader‐Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletionAmerican Journal of Medical Genetics, 1989
- The EEG in early diagnosis of the Angelman (Happy Puppet) syndromeEuropean Journal of Pediatrics, 1988
- Familial deletion.1983