Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1976 Apr;13(2):152–157. doi: 10.1136/jmg.13.2.152

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

C J Hawkey, A Smithies
PMCID: PMC1013377  PMID: 933113

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.

Full text

PDF

Images in this article

153Image
on p.153
153Image
on p.153
153Image
on p.153
154Image
on p.154
154Image
on p.154

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Afifi A. K., Zellweger H. Pathology of muscular hypotonia in the Prader-Willi syndrome. Light and electron microscopic study. J Neurol Sci. 1969 Jul-Aug;9(1):49–61. doi: 10.1016/0022-510x(69)90058-6. [DOI] [PubMed] [Google Scholar]
  2. Anand S. K., Kogut M. D., Lieberman E. Persistent hypernatremia due to abnormal thirst mechanism in a 13-year-old child with nephrogenic diabetes insipidus. J Pediatr. 1972 Dec;81(6):1097–1105. doi: 10.1016/s0022-3476(72)80238-5. [DOI] [PubMed] [Google Scholar]
  3. BUHLER E. M., ROSSIER R., BODIS I., VULLIET V., BUHLER U. K., STALDER G. [Chromosomal translocation in a mentally deficient child with cryptorchidism]. Acta Paediatr. 1963 Mar;52:177–182. doi: 10.1111/j.1651-2227.1963.tb03762.x. [DOI] [PubMed] [Google Scholar]
  4. Cohen M. M., Jr, Gorlin R. J. The Prader-Willi syndrome. Am J Dis Child. 1969 Feb;117(2):213–218. doi: 10.1001/archpedi.1969.02100030215018. [DOI] [PubMed] [Google Scholar]
  5. DUNN H. G., FORD D. K., AUERSPERG N., MILLER J. R. Benign congenital hypotonia with chromosomal anomaly. Pediatrics. 1961 Oct;28:578–591. [PubMed] [Google Scholar]
  6. Dubowitz V. 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):1006–1008. [PMC free article] [PubMed] [Google Scholar]
  7. Dunn H. G. The Prader-Labhart-Willi syndrome: review of the literature and report of nine cases. Acta Paediatr Scand. 1968;(Suppl):1+–1+. doi: 10.1111/j.1651-2227.1968.tb06038.x. [DOI] [PubMed] [Google Scholar]
  8. EVANS P. R. HYPOGENITAL DYSTROPHY WITH DIABETIC TENDENCY. Guys Hosp Rep. 1964;113:207–222. [PubMed] [Google Scholar]
  9. FORSSMAN H., HAGBERG B. PRADER-WILLI SYNDROME IN BOY OF TEN WITH PREDIABETES. Acta Paediatr. 1964 Jan;53:70–78. doi: 10.1111/j.1651-2227.1964.tb07208.x. [DOI] [PubMed] [Google Scholar]
  10. Foster S. C. Prader-Willi syndrome: report of cases. J Am Dent Assoc. 1971 Sep;83(3):634–638. doi: 10.14219/jada.archive.1971.0349. [DOI] [PubMed] [Google Scholar]
  11. Haberfellner H., Glatzl J., Unterkircher R. Prader-Willi-Labhart-Syndrom im Säuglingsalter. Padiatr Padol. 1974;9(2):123–129. [PubMed] [Google Scholar]
  12. Hall B. D., Smith D. W. 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):286–293. doi: 10.1016/s0022-3476(72)80297-x. [DOI] [PubMed] [Google Scholar]
  13. Hecht F., Kimberling W. J. Patterns of D chromosome involvement in human (DqDq) and (DqGq) Robertsonian rearrangements. Am J Hum Genet. 1971 Jul;23(4):361–367. [PMC free article] [PubMed] [Google Scholar]
  14. JENAB M., LADE R. I., CHIGA M., DIEHL A. M. Cardiorespiratory syndrome of obesity in a child; case report and necropsy findings. Pediatrics. 1959 Jul;24(1):23–30. [PubMed] [Google Scholar]
  15. Juul J., Dupont A. Prader-Willi syndrome. J Ment Defic Res. 1967 Mar;11(1):12–22. doi: 10.1111/j.1365-2788.1967.tb00198.x. [DOI] [PubMed] [Google Scholar]
  16. Landwirth J., Schwartz A. H., Grunt J. A. Prader-Willi syndrome. Am J Dis Child. 1968 Aug;116(2):211–217. doi: 10.1001/archpedi.1968.02100020213017. [DOI] [PubMed] [Google Scholar]
  17. Laurance B. M. Hypotonia, mental retardation, obesity, and cryptorchidism associated with dwarfism and diabetes in children. Arch Dis Child. 1967 Apr;42(222):126–139. doi: 10.1136/adc.42.222.126. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Lucas M. Translocation between both members of chromosome pair number 15 causing recurrent abortions. Ann Hum Genet. 1969 May;32(4):347–352. doi: 10.1111/j.1469-1809.1969.tb00085.x. [DOI] [PubMed] [Google Scholar]
  19. Morgner K. D., Geisthövel W., Niedergerke U., zur Mühlen A von Hypogonadismus infolge Mangels an Luteotropin-Releasing-Hormon (LHRH) bei Prader-Labhart-Willi-Syndrom. Dtsch Med Wochenschr. 1974 May 31;99(22):1196–1198. doi: 10.1055/s-0028-1107917. [DOI] [PubMed] [Google Scholar]
  20. Parra A., Cervantes C., Schultz R. B. Immunoreactive insulin and growth hormone responses in patients with Prader-Willi syndrome. J Pediatr. 1973 Oct;83(4):587–593. doi: 10.1016/s0022-3476(73)80219-7. [DOI] [PubMed] [Google Scholar]
  21. Pearson K. D., Steinbach H. L., Bier D. M. Roentgenographic manifestations of the Prader-Willi syndrome. Radiology. 1971 Aug;100(2):369–377. doi: 10.1148/100.2.369. [DOI] [PubMed] [Google Scholar]
  22. Pipes P. L., Holm V. A. Weight control of children with Prader-Willi syndrome. J Am Diet Assoc. 1973 May;62(5):520–524. [PubMed] [Google Scholar]
  23. Ridler M. A., Garrod O., Berg J. M. A case of Prader-Willi syndrome in a girl with a small extra chromosome. Acta Paediatr Scand. 1971 Mar;60(2):222–226. doi: 10.1111/j.1651-2227.1971.tb06646.x. [DOI] [PubMed] [Google Scholar]
  24. Roget J., Mouriquand C., Bernard Y., Patet J., Jobert J., Gilly C. Syndrome associant adiposité, chryptorchidie et retard mental accompagné d'une aberration chromosomique. Pediatrie. 1965 Apr-May;20(3):295–300. [PubMed] [Google Scholar]
  25. Schneider H. J., Zellweger H. Forme fruste of the Prader-Willi syndrome (HHHO) and balanced D-E translocation. Helv Paediatr Acta. 1968 Apr;23(2):128–135. [PubMed] [Google Scholar]
  26. Seabright M. A rapid banding technique for human chromosomes. Lancet. 1971 Oct 30;2(7731):971–972. doi: 10.1016/s0140-6736(71)90287-x. [DOI] [PubMed] [Google Scholar]
  27. Spencer D. A. Prader-Willi syndrome. Lancet. 1968 Sep 7;2(7567):571–571. doi: 10.1016/s0140-6736(68)92433-1. [DOI] [PubMed] [Google Scholar]
  28. Stolecke H., ter Huerne C., Tiling E. Prader-Labhart-Willi-Syndrom: Klinische und psychopathologische Untersuchungsergebnisse bei 4 eigenen Patienten. Monatsschr Kinderheilkd. 1974 Jan;122(1):10–17. [PubMed] [Google Scholar]
  29. Zellweger H., Schneider H. J. Syndrome of hypotonia-hypomentia-hypogonadism-obesity (HHHO) or Prader-Willi syndrome. Am J Dis Child. 1968 May;115(5):588–598. doi: 10.1001/archpedi.1968.02100010590009. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES