Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment.

Human genetics ·Vol. 64 ·No. 4 ·1983-00-00 ·Pages 388-94

Fraccaro M, Zuffardi O, Bühler E, Schinzel A, Simoni G, Witkowski R, Bonifaci E, Caufin D, Cignacco G, Delendi N

Abstract

Seven patients are described who have some or all of the symptoms of Prader-Willi syndrome. They were ascertained by varying criteria starting either from the clinical picture or from the identification of a chromosome abnormality involving the proximal portion of the long arm of chromosome 15. The chromosome abnormalities consisted of two balanced translocations (15;18 and 8;15), three unbalanced ones (15;18, 15;19, and 9;15), and one interstitial deletion of bands 15q11 and q12. The seventh case had an unidentified extra chromosome. These data and a review of the literature led to the conclusion that deficiency, transposition, and even duplication of the region(s) 15q11-q13 may all result in a syndrome which is identifiable with or similar to the Prader-Willi syndrome.

MeSH Terms

Adolescent Adult Body Height Body Weight Child Child, Preschool Chromosome Aberrations Chromosome Deletion Chromosomes, Human, 13-15 Chromosomes, Human, 16-18 Chromosomes, Human, 19-20 Chromosomes, Human, 6-12 and X Consanguinity Female Humans Infant Infant, Newborn Karyotyping Male Prader-Willi Syndrome/genetics Translocation, Genetic

Authors & Affiliations

10 authors, click to expand affiliations / ORCID

Fraccaro M

Zuffardi O

Bühler E

Schinzel A

Simoni G

Witkowski R

Bonifaci E

Caufin D

Cignacco G

Delendi N

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23 references, click to expand

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Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00292373

Published

1983-00-00

Pages

388-94

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00292373 View journal details

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Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment.

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