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PMID: 7942854 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients.

American journal of human genetics ·Vol. 55 ·No. 4 ·1994-10-00 ·Pages 753-9

Cheng SD, Spinner NB, Zackai EH, Knoll JH

Abstract

We have studied the inverted duplicated chromosomes 15 (inv dup(15)) from 11 individuals--7 with severe mental retardation and seizures, 3 with a normal phenotype, and 1 with Prader-Willi syndrome (PWS). Through a combination of FISH and quantitative DNA analyses, three different molecular sizes of inv dup(15) were identified. The smallest inv dup(15) was positive only for the centromeric locus D15Z1 (type 1); the next size was positive for D15Z1 and D15S18 (type 2); and the largest inv dup(15) was positive for two additional copies of loci extending from D15Z1 and D15S18 through D15S12 (type 3). Type 1 or type 2 was observed in the three normal individuals and the PWS patient. Type 3 was observed in all seven individuals with mental retardation and seizures but without PWS or Angelman Syndrome (AS). The PWS patient, in addition to being mosaic for a small inv dup(15), demonstrated at D15S63 a methylation pattern consistent with maternal uniparental inheritance of the normal chromosomes 15. The results from this study show (a) two additional copies of proximal 15q loci, D15S9 through D15S12, in mentally retarded patients with an inv dup(15) but without AS or PWS and (b) no additional copies of these loci in patients with a normal phenotype or with PWS.

MeSH Terms
Adolescent Adult Blotting, Southern Child Child, Preschool Chromosome Banding Chromosome Inversion Chromosome Mapping Chromosomes, Human, Pair 15 DNA/blood,chemistry Female Genetic Markers Humans In Situ Hybridization, Fluorescence Intellectual Disability/genetics Karyotyping Male Phenotype Prader-Willi Syndrome/genetics Seizures/genetics
Chemicals
Genetic Markers DNA
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Cheng S D
Division of Genetics, Children's Hospital, Boston, MA 02115.
Spinner N B
Zackai E H
Knoll J H
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34 references, click to expand
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1994-10-00
Pages
753-9
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1918309
Subset
IM
Grants
NICHD NIH HHS · HD18658 · United States
External Links
PubMed source PMC Full Text View journal details
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