Skip to main content
Log in

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

  • Clinical Case Reports
  • Published:
Human Genetics Aims and scope Submit manuscript

Summary

A 21-year-old girl with classical Prader-Willi Syndrome was found to have a 14;15 Robertsonian translocation—45,XX,t(14;15)(p11;q11). This type of Robertsonian translocation was not found in any patient from 8 surveys covering 6144 patients with mental retardation. Chromosome 15 has been involved in translocations in patients with the Prader-Willi Syndrome with greater than expected frequency. This is the first report of a 14;15 translocation and the Prader-Willi Syndrome. The same balanced translocation was present in the patient's mother and 2 normal siblings. Future genetic counselling for these 2 siblings will be difficult.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Arrighi FE, Hsu TC (1971) Localisation of heterochromatin in human chromosomes. Cytogenet Cell Genet 10:81–86

    Google Scholar 

  • Carrel RE, Sparkes RS, Wright SW (1973). Chromosome survey of moderately to profoundly retarded patients. Am J Ment Defic 77:616–622

    Google Scholar 

  • Cohen MM (1971) The chromosomal constitution of 165 human translocations involving D group chromosomes identified by auto-radiography. Ann Genet (Paris) 14:87–96

    Google Scholar 

  • Doyle CT (1976) The cytogenetics of 90 patients with idiopathic mental retardation malformation syndromes and of 90 normal subjects. Hum Genet 33:131–146

    Google Scholar 

  • Emberger JM, Rodiere M, Astruc J, Brunel D (1977) Syndrome de Prader-Willi et translocation 15–15. Ann Genet (Paris) 20:297–300

    Google Scholar 

  • Erdimann B, Salzano FM, Mattevi MS (1975) Chromosome studies in patients with congenital malformations and mental retardation. Hum Genet 26:297–306

    Google Scholar 

  • Faed MJW, Robertson J, Field AS, Mellon JP (1979) A chromosome survey of a hospital for the mentally subnormal. Clin Genet 16:191–204

    Google Scholar 

  • Fraccaro M, Zuffardi O Bühler EM, Jurk L (1977) 15/15 translocation in Prader-Willi Syndrome. J Med Genet 14: 275–278

    Google Scholar 

  • Fraccaro M, Zuffardi O, Bühler E (1979) Deficiencies involving the paracentromeric regions of chromosome 15: Prader-Willi or a new syndrome? In: Tolksdorf M, Spranger J (eds) Klinische Genetik in der Pädiatrie. Georg Thieme, Stuttgart

    Google Scholar 

  • Funderburk JS, Spence MA, Sparkes RS (1977) Mental retardation associated with “balanced” chromosome rearrangements. Am J Hum Genet 29:136–141

    Google Scholar 

  • Hamerton JL, Canning N, Ray M, Smith S (1975) A cytogenetic survey of 14,069 newborn infants. 1. Incidence of chromosome abnormalities. Clin Genet 8:223–243

    Google Scholar 

  • Hawkey CJ, Smithies A (1976) The Prader-Willi Syndrome with a 15/15 translocation. J Med Genet 13:152–163

    Google Scholar 

  • Hecht F, Kimberling WJ (1971) Patterns of D chromosome involvement in human (DqDq) and (DqGq). Robertsonian rearrangements. Am J Hum Genet 23:361–367

    Google Scholar 

  • Jacobs PA, Frankiewicz A, Law P (1972) Incidence and mutation rates of structural rearrangements of the autosomes in man. Ann Hum Genet 35:301–319

    Google Scholar 

  • Jacobs PA, Buckton KE, Christie S, Newton M, Mathew D (1974) A family with two translocations and a polymorphism involving chromosome 14. J Med Genet 11:65–68

    Google Scholar 

  • Monteleone PL, Volk LR, Sekhon GS, Grzegocki J, Tietjens M, Monteleone JA, Sekhon HR (1978) (14q15q). Translocation in several members of a family. Birth Defects: Orig Art Ser, Vol XIV, No 6C. The National Foundation, p 303–308

    Google Scholar 

  • Moorhead PS, Nowell PC, Mellman WJ, Battips DM, Hungerford DA (1960) Chromosome preparation of leucocytes cultured from human peripheral blood Exp Cell Res 20: 613–616

    Google Scholar 

  • Newton MS, Cunningham C, Jacobs PA, Price WH, Fraser IA (1972) Chromosome survey of a hospital for the mentally subnormal. Part 2: Autosome abnormalities. Clin Genet 3: 226–248

    Google Scholar 

  • Seabright M (1971) A rapid banding technique for human chromosomes. Lancet II: 971–972

    Google Scholar 

  • Singh DN, Osborne RA, Paul JR, Catoe S, Katzberg G, Hennigar GR, Barnett CD (1974) Cytogenetic survey of 504 mentally retarded individuals. J Ment Defic Res 18:293–305

    Google Scholar 

  • Speed RM, Johnston AW, Evans HJ (1976) Chromosome survey of total population of mentally subnormal in North-East of Scotland. J Med Genet 13:295–306

    Google Scholar 

  • Stenchever MA, Jarvis JA, Macintyre MN (1968) Cytogenetics of habitual abortion. Obstet Gynecol 32:548–555

    Google Scholar 

  • Sutherland GR, Murch AR, Gardiner AJ, Carter RF, Wiseman C (1976) Cytogenetic survey of a hospital for the mentally retarded. Hum Genet 34:231–245

    Google Scholar 

  • Zeuthen E, Nielsen J (1973) D/D translocation in males examined for military service. J Med Genet 10:356–361

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Smith, A., Noel, M. 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 55, 271–273 (1980). https://doi.org/10.1007/BF00291777

Download citation

  • Received:

  • Revised:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00291777

Keywords

Navigation