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PMID: 6373566 Published · ppublish English Journal Article Review

Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis.

Human genetics ·Vol. 66 ·No. 4 ·1984-00-00 ·Pages 313-34

Mattei MG, Souiah N, Mattei JF

Abstract

The behaviour of chromosome 15 is very different from that of the other acrocentric chromosomes. The cytogenetic characteristics of rearrangements associated with Prader-Willi syndrome (PWS) are analyzed as similar rearrangements irrespective of the associated phenotype (reciprocal translocations of chromosome 15, small bisatellited additional chromosomes, Robertsonian translocations, interstitial deletions, pericentric inversions). This study suggests that: (1) The proximal ( 15q ) region and PWS seem to be indissociable ; (2) chromosome 15 has an indisputable cytogenetic originality which could be related to its histochemical properties. Chromosome 15 constitutive heterochromatin usually contains much 5-methylcytosine-rich DNA and a large amount of each of the four satellite DNAs. Furthermore the existence in the proximal ( 15q ) region of one or several palindromic sequences could be postulated to explain the great lability of this region of chromosome 15.

MeSH Terms
Chromosome Aberrations Chromosome Banding Chromosome Deletion Chromosome Inversion Chromosomes, Human, 13-15 Humans Karyotyping Prader-Willi Syndrome/genetics Translocation, Genetic Trisomy
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Mattei M G
Souiah N
Mattei J F
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00287636
Published
1984-00-00
Pages
313-34
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00287636 View journal details
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