A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome.
Open Access
- 1 March 1995
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 32 (3), 181-185
- https://doi.org/10.1136/jmg.32.3.181
Abstract
A clinical, cytogenetic, and molecular study has been carried out on 40 adults with a firm diagnosis of Prader-Willi syndrome. A cytogenetically detectable deletion was observed in 58% while further subjects had a deletion which was detectable by molecular methods only, giving a total of 76%. Four cases of maternal uniparental disomy (UPD) were all female. Three of them were heterodisomic while the fourth was isodisomic. Two male probands were heterozygous at all loci tested yet did not have UPD. Although methylation studies showed that one of them had a single band using probe PW71, the other one had two bands. Psychiatric studies suggest that females with maternal UPD are indistinguishable psychologically from those with a paternal deletion in 15q11q13.Keywords
This publication has 24 references indexed in Scilit:
- A male with a de novo translocation involving loss of 15q11q13 material and Prader-Willi syndrome.Journal of Medical Genetics, 1994
- Molecular definition of the Prader — Willi syndrome chromosome region and orientation of the SNRPN geneHuman Molecular Genetics, 1993
- Modification of 15q11 — q13 DNA methylation imprints in unique Angelman and Prader — Willi patientsHuman Molecular Genetics, 1993
- FISH ordering of reference markers and of the gene for the α5 subunit of the γ-aminobutyric acid receptor (GABRA5) within the Angelman and Prader–Willi syndrome chromosomal regionsHuman Molecular Genetics, 1993
- Exclusion of the GABAA-receptor β3 subunit gene as the Angelman's syndrome geneThe Lancet, 1993
- Prader‐Willi syndrome in a brother and sister without cytogenetic or detectable molecular genetic abnormality at chromosome 15q11q13American Journal of Medical Genetics, 1992
- Maternal origin of 15q11–13 deletions in Angelman syndrome suggests a role for genomic imprintingAmerican Journal of Medical Genetics, 1990
- Second Annual Prader-Willi Syndrome Scientific ConferenceAmerican Journal of Medical Genetics, 1987
- Neuropsychological capacity of prader-willi children: General and specific aspects of impairmentApplied Research in Mental Retardation, 1986
- Deletions of Chromosome 15 as a Cause of the Prader–Willi SyndromeThe New England Journal of Medicine, 1981