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PMID: 9529335 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15.

American journal of human genetics ·Vol. 62 ·No. 4 ·1998-04-00 ·Pages 925-36

Wandstrat AE, Leana-Cox J, Jenkins L, Schwartz S

Abstract

Chromosomes from 20 patients were used to delineate the breakpoints of inverted duplications of chromosome 15 (inv dup[15]) that include the Prader-Willi syndrome/Angelman syndrome (PWS/AS) chromosomal region (15q11-q13). YAC and cosmid clones from 15q11-q14 were used for FISH analysis, to detect the presence or absence of material on each inv dup(15). We describe two types of inv dup(15): those that break between D15S12 and D15S24, near the distal boundary of the PWS/AS chromosomal region, and those that share a breakpoint immediately proximal to D15S1010. Among the latter group, no breakpoint heterogeneity could be detected with the available probes, and one YAC (810f11) showed a reduced signal on each inv dup(15), compared with that on normal chromosomes 15. The lack of breakpoint heterogeneity may be the result of a U-type exchange involving particular sequences on either homologous chromosomes or sister chromatids. Parent-of-origin studies revealed that, in all the cases analyzed, the inv dup(15) was maternal in origin.

MeSH Terms
Adolescent Adult Child Child, Preschool Chromosomes, Artificial, Yeast Chromosomes, Human, Pair 15 Female Humans In Situ Hybridization, Fluorescence Male Multigene Family Prader-Willi Syndrome/genetics
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Wandstrat A E
Department of Genetics, Case Western Reserve University School of Medicine, and Center for Human Genetics, University Hospitals of Cleveland, Cleveland, OH, USA.
Leana-Cox J
Jenkins L
Schwartz S
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
DOI
10.1086/301777
Published
1998-04-00
Pages
925-36
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1377019
Subset
IM
Grants
NICHD NIH HHS · P01 HD32111 · United States
External Links
PubMed source DOI: 10.1086/301777 PMC Full Text View journal details
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