Home LiteratureArticle Details
PMID: 6618488 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Prader-Willi syndrome and chromosome 15. A clinical discussion of 20 cases.

Human genetics ·Vol. 64 ·No. 4 ·1983-00-00 ·Pages 356-62

Mattei JF, Mattei MG, Giraud F

Abstract

A chromosome 15 anomaly was observed in 12 of 20 patients, 17 of whom were clinically suspected of having Prader-Willi syndrome (PWS). The clinical features of eight cases with 15q11-12 deletion were very similar to those originally described in PWS. On the other hand, the group of normal karyotype patients is heterogeneous, and their features do not strictly correspond to the clinical definition of PWS. However, the hypothesis that PWS is associated with deletion of 15q11-12 can neither explain the apparently balanced translocations of chromosome 15 nor account for the small supernumerary metacentric chromosomes corresponding to an isochromosome 15 for band 15q11 observed in some cases.

MeSH Terms
Adolescent Body Height Body Weight Child Child, Preschool Chromosome Deletion Chromosomes, Human, 13-15 Female Gestational Age Humans Infant Karyotyping Male Prader-Willi Syndrome/genetics Translocation, Genetic
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Mattei J F
Mattei M G
Giraud F
References (25)
25 references, click to expand
  1. Abnormal childhood phenotypes associated with the same balanced chromosome rearrangements as in the parents.
    Hum Genet. 1979 Apr 17;48(1):7-12 PMID: 457136
  2. An extra idic(15p)(q11) chromosome in Prader-Willi syndrome.
    Hum Genet. 1980;55(3):409-11 PMID: 6162774
  3. [Prader, Labhardt and Willi syndrome (study of 11 cases)].
    Arch Fr Pediatr. 1968 Feb;25(2):121-49 PMID: 4386467
  4. Franceschetti syndrome in a child with a de novo balanced translocation (5;13)(q11;p11) and significant decrease of hexosaminidase B.
    Hum Genet. 1983;64(3):305-8 PMID: 6224737
  5. A case of Prader-Willi syndrome in a girl with a small extra chromosome.
    Acta Paediatr Scand. 1971 Mar;60(2):222-6 PMID: 5548129
  6. A severely retarded male with deletion of chromosomes 15 (pter leads to q13) and 10 (q 26 leads to qter).
    J Med Genet. 1982 Feb;19(1):77 PMID: 7069753
  7. Prader-Willi syndrome and a bisatellited derivative of chromosome 15.
    Clin Genet. 1980 Jul;18(1):42-7 PMID: 7418253
  8. 15/15 translocation in Prader-Willi syndrome.
    J Med Genet. 1977 Aug;14(4):275-6 PMID: 72821
  9. A new case of Prader-Willi syndrome with chromosomal aberration.
    J Med Genet. 1981 Dec;18(6):481 PMID: 7334512
  10. A 15 leads to 1 translocation in a patient mosaic for presence or absence of an isodic(15p)(q11).
    Am J Med Genet. 1982 Dec;13(4):417-21 PMID: 7158641
  11. A girl with the Prader-Willi syndrome and Robertsonian translocation 45,XX,t(14;15)(p11;q11) which was present in three normal family members.
    Hum Genet. 1980;55(2):271-3 PMID: 7450770
  12. Prader-Willi syndrome. (Hypotonia, obesity, hypogonadism, growth and mental retardation).
    J Ment Defic Res. 1971 Mar;15(1):20-9 PMID: 5581387
  13. Prader-Willi syndrome and chromosomal mosaicism 46,XY/47,XY,+mar in two cases.
    Clin Genet. 1979 Sep;16(3):147-50 PMID: 573673
  14. Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases.
    Am J Hum Genet. 1982 Mar;34(2):278-85 PMID: 7072717
  15. A new case of rearrangement of chromosome 15 associated with Prader Willi syndrome.
    Clin Genet. 1980 Jun;17(6):423-7 PMID: 7398114
  16. Mental retardation associated with "balanced" chromosome rearrangements.
    Am J Hum Genet. 1977 Mar;29(2):136-41 PMID: 848489
  17. [A jumping translocation (5p;15q), (8q;15q), and (12q;15q) (author's transl)].
    Ann Genet. 1979;22(4):210-3 PMID: 317782
  18. Systematic analysis of 95 reciprocal translocations of autosomes.
    Hum Genet. 1978 Dec 29;45(3):259-82 PMID: 738728
  19. Prader-Willi syndrome. Variable severity and recurrence risk.
    Am J Dis Child. 1977 Jul;131(7):798-800 PMID: 879118
  20. Apparently balanced de novo translocations in patients with abnormal phenotypes: report of 6 cases.
    Clin Genet. 1977 Apr;11(4):255-69 PMID: 856508
  21. A 15/17 translocation in a patient with Prader-Labhart-Willi syndrome.
    Hum Hered. 1982;32(3):149-51 PMID: 7106779
  22. The Prader-Willi syndrome with a 15/3 translocation.
    J Med Genet. 1979 Jun;16(3):234-5 PMID: 469905
  23. Correlation between immunoglobulin light chain expression and variant translocation in Burkitt's lymphoma.
    Nature. 1982 Jul 29;298(5873):474-6 PMID: 6806672
  24. Prader-Willi syndrome. A resumé of 32 cases including an instance of affected first cousins, one of whom is of normal stature and intelligence.
    J Pediatr. 1972 Aug;81(2):286-93 PMID: 5042487
  25. Deletions of chromosome 15 as a cause of the Prader-Willi syndrome.
    N Engl J Med. 1981 Feb 5;304(6):325-9 PMID: 7442771
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00292367
Published
1983-00-00
Pages
356-62
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00292367 View journal details
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: product@genelibs.com

Copyright © 2026.Genelibs Jinan Honghui Biotechnology Co., Ltd. 鲁ICP备20007159号-2