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. 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.

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Selected References

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  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]

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