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PMID: 3198109 Published · ppublish English Journal Article

Similar molecular deletions on chromosome 15q11.2 are encountered in both the Prader-Willi and Angelman syndromes.

Human genetics ·Vol. 80 ·No. 4 ·1988-12-00 ·Pages 322-8

Donlon TA

Abstract

Comparative molecular analysis of chromosome 15, sub-band q11.2 of patients with the Prader-Willi or Angelman syndromes demonstrates that they have a similar deletion. An hypothesis is presented that attempts to explain the tremendous degree of clinical heterogeneity in these diverse deletion-associated syndromes based on abnormal haplotypes present on the cytogenetically normal homolog. This hypothesis also addresses genetic similarities between patients who have deletion and those who have the inv dup(15) by postulating that these syndromes are caused by relative dosage ratios of normal versus abnormal alleles.

MeSH Terms
Abnormalities, Multiple/genetics Blotting, Southern Chromosome Deletion Chromosome Mapping Chromosomes, Human, Pair 15 DNA Probes Female Humans Karyotyping Male Pedigree Prader-Willi Syndrome/genetics Syndrome
Chemicals
DNA Probes
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Donlon T A
Clinical Cytogenetics, Stanford University Hospital, CA.
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46 references, click to expand
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00273644
Published
1988-12-00
Pages
322-8
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
Corrections
CommentIn
PMID: 2777263
External Links
PubMed source DOI: 10.1007/BF00273644 View journal details
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