Home LiteratureArticle Details
PMID: 933113 Published · ppublish English Case Reports Journal Article

The Prader-Willi syndrome with a 15/15 translocation. Case report and review of the literature.

Journal of medical genetics ·Vol. 13 ·No. 2 ·1976-04-00 ·Pages 152-7

Hawkey CJ, Smithies A

Abstract

A case, diagnosed clinically as the Prader-Willi syndrome, was shown by Giemsa banding, to have a 15/15 chromosome translocation. A review of the literature indicates that such a translocation has only been described once before, in a normal woman, but that chromosme abnormalities in the Prader-Willi syndrome most commonly involve the D group. The significance of this would be clarified by specific chromosome identification in these patients.

MeSH Terms
Adult Carbohydrate Metabolism, Inborn Errors/genetics Chromosome Aberrations Chromosomes, Human, 13-15 Humans Intellectual Disability/genetics Male Obesity/genetics Translocation, Genetic
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Hawkey C J
Smithies A
References (29)
29 references, click to expand
  1. [Chromosomal translocation in a mentally deficient child with cryptorchidism].
    Acta Paediatr. 1963 Mar;52:177-82 PMID: 14041555
  2. HYPOGENITAL DYSTROPHY WITH DIABETIC TENDENCY.
    Guys Hosp Rep. 1964;113:207-22 PMID: 14225127
  3. PRADER-WILLI SYNDROME IN BOY OF TEN WITH PREDIABETES.
    Acta Paediatr. 1964 Jan;53:70-8 PMID: 14114320
  4. Benign congenital hypotonia with chromosomal anomaly.
    Pediatrics. 1961 Oct;28:578-91 PMID: 13888498
  5. Cardiorespiratory syndrome of obesity in a child; case report and necropsy findings.
    Pediatrics. 1959 Jul;24(1):23-30 PMID: 13667329
  6. Prader-Willi syndrome: report of cases.
    J Am Dent Assoc. 1971 Sep;83(3):634-8 PMID: 5284239
  7. Translocation between both members of chromosome pair number 15 causing recurrent abortions.
    Ann Hum Genet. 1969 May;32(4):347-52 PMID: 5822322
  8. A rapid banding technique for human chromosomes.
    Lancet. 1971 Oct 30;2(7731):971-2 PMID: 4107917
  9. Forme fruste of the Prader-Willi syndrome (HHHO) and balanced D-E translocation.
    Helv Paediatr Acta. 1968 Apr;23(2):128-35 PMID: 4387003
  10. Syndrome of hypotonia-hypomentia-hypogonadism-obesity (HHHO) or Prader-Willi syndrome.
    Am J Dis Child. 1968 May;115(5):588-98 PMID: 5645106
  11. Prader-Willi syndrome.
    Lancet. 1968 Sep 7;2(7567):571 PMID: 4175418
  12. A syndrome of benign congenital hypotonia, gross obesity, delayed intellectual development, retarded bone age, and unusual facies.
    Proc R Soc Med. 1967 Oct;60(10):1006-8 PMID: 4383414
  13. Hypotonia, mental retardation, obesity, and cryptorchidism associated with dwarfism and diabetes in children.
    Arch Dis Child. 1967 Apr;42(222):126-39 PMID: 4381583
  14. [Hypogonadism due to luteotropin-releasing hormone (LHRH) deficiency in a child with Prader-Labhart-Willi syndrome (author's transl)].
    Dtsch Med Wochenschr. 1974 May 31;99(22):1196-8 PMID: 4600868
  15. [Prader-Willi-Labhart-syndrome in infancy (author's transl)].
    Padiatr Padol. 1974;9(2):123-9 PMID: 4823693
  16. [Prader-Labhart-Willi syndrome. Clinical and psychopathological findings in four patients (author's transl)].
    Monatsschr Kinderheilkd. 1974 Jan;122(1):10-7 PMID: 4820451
  17. Immunoreactive insulin and growth hormone responses in patients with Prader-Willi syndrome.
    J Pediatr. 1973 Oct;83(4):587-93 PMID: 4729981
  18. Weight control of children with Prader-Willi syndrome.
    J Am Diet Assoc. 1973 May;62(5):520-4 PMID: 4698198
  19. Persistent hypernatremia due to abnormal thirst mechanism in a 13-year-old child with nephrogenic diabetes insipidus.
    J Pediatr. 1972 Dec;81(6):1097-105 PMID: 4643027
  20. 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
  21. Roentgenographic manifestations of the Prader-Willi syndrome.
    Radiology. 1971 Aug;100(2):369-77 PMID: 5147402
  22. Patterns of D chromosome involvement in human (DqDq) and (DqGq) Robertsonian rearrangements.
    Am J Hum Genet. 1971 Jul;23(4):361-7 PMID: 5097902
  23. 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
  24. Pathology of muscular hypotonia in the Prader-Willi syndrome. Light and electron microscopic study.
    J Neurol Sci. 1969 Jul-Aug;9(1):49-61 PMID: 5820859
  25. The Prader-Willi syndrome.
    Am J Dis Child. 1969 Feb;117(2):213-8 PMID: 5763832
  26. The Prader-Labhart-Willi syndrome: review of the literature and report of nine cases.
    Acta Paediatr Scand. 1968;:Suppl 186:1+ PMID: 5728638
  27. Prader-Willi syndrome.
    Am J Dis Child. 1968 Aug;116(2):211-7 PMID: 5659301
  28. Prader-Willi syndrome.
    J Ment Defic Res. 1967 Mar;11(1):12-22 PMID: 6034523
  29. [Syndrome associated with adiposis, cryptorchism and mental retardation accompanied by a chromosomal aberration].
    Pediatrie. 1965 Apr-May;20(3):295-300 PMID: 5827050
Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
0022-2593
DOI
10.1136/jmg.13.2.152
Published
1976-04-00
Pages
152-7
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1013377
Subset
IM
External Links
PubMed source DOI: 10.1136/jmg.13.2.152 PMC Full Text 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: [email protected]

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