Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1998 Aug;35(8):685–689. doi: 10.1136/jmg.35.8.685

Distal 6p deletion syndrome: a report of a case with anterior chamber eye anomaly and review of published reports.

C J Law 1, A M Fisher 1, I K Temple 1
PMCID: PMC1051400  PMID: 9719381

Abstract

We describe a 32 year old male with a distal 6p24.3-->pter deletion. He has specific developmental anomalies of the anterior chamber of the eye and a cleft uvula which is consistent with the recent localisation of genes for iris development and orofacial clefting to distal 6p. In addition he has progressive sensorineural deafness and this may localise a gene for deafness to this region. We conclude that a refined distal 6p deletion syndrome exists and includes a characteristic facial appearance with hypertelorism, downward slanting palpebral fissures, tented mouth, smooth philtrum, palatal malformation, ear anomalies, anterior chamber eye defects, progressive sensorineural deafness, cardiac defects, abdominal herniae, small external genitalia, and motor and speech delay.

Full text

PDF
685

Images in this article

685Image
on p.685
686Image
on p.686
687Image
on p.687
688Image
on p.688
688Image
on p.688

Selected References

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

  1. A complete set of human telomeric probes and their clinical application. National Institutes of Health and Institute of Molecular Medicine collaboration. Nat Genet. 1996 Sep;14(1):86–89. doi: 10.1038/ng0996-86. [DOI] [PubMed] [Google Scholar]
  2. Davies A. F., Olavesen M. G., Stephens R. J., Davidson R., Delneste D., Van Regemorter N., Vamos E., Flinter F., Abusaad I., Ragoussis J. A detailed investigation of two cases exhibiting characteristics of the 6p deletion syndrome. Hum Genet. 1996 Oct;98(4):454–459. doi: 10.1007/s004390050239. [DOI] [PubMed] [Google Scholar]
  3. Davies A. F., Stephens R. J., Olavesen M. G., Heather L., Dixon M. J., Magee A., Flinter F., Ragoussis J. Evidence of a locus for orofacial clefting on human chromosome 6p24 and STS content map of the region. Hum Mol Genet. 1995 Jan;4(1):121–128. doi: 10.1093/hmg/4.1.121. [DOI] [PubMed] [Google Scholar]
  4. Gould D. B., Mears A. J., Pearce W. G., Walter M. A. Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25. Am J Hum Genet. 1997 Sep;61(3):765–768. [PMC free article] [PubMed] [Google Scholar]
  5. Jalal S. M., Macias V. R., Roop H., Morgan F., King P. Two rare cases of 6p partial deletion. Clin Genet. 1989 Sep;36(3):196–199. doi: 10.1111/j.1399-0004.1989.tb03188.x. [DOI] [PubMed] [Google Scholar]
  6. Kelly P. C., Blake W. W., Davis J. R. Tandem Y/6 translocation with partial deletion 6 (p23----pter). Clin Genet. 1989 Sep;36(3):204–207. [PubMed] [Google Scholar]
  7. Kormann-Bortolotto M. H., Farah L. M., Soares D., Corbani M., Müller R., Adell A. C. Terminal deletion 6p23: a case report. Am J Med Genet. 1990 Dec;37(4):475–477. doi: 10.1002/ajmg.1320370410. [DOI] [PubMed] [Google Scholar]
  8. Mears A. J., Mirzayans F., Gould D. B., Pearce W. G., Walter M. A. Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25. Am J Hum Genet. 1996 Dec;59(6):1321–1327. [PMC free article] [PubMed] [Google Scholar]
  9. Palmer C. G., Bader P., Slovak M. L., Comings D. E., Pettenati M. J. Partial deletion of chromosome 6p: delineation of the syndrome. Am J Med Genet. 1991 May 1;39(2):155–160. doi: 10.1002/ajmg.1320390208. [DOI] [PubMed] [Google Scholar]
  10. Pinkel D., Landegent J., Collins C., Fuscoe J., Segraves R., Lucas J., Gray J. Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4. Proc Natl Acad Sci U S A. 1988 Dec;85(23):9138–9142. doi: 10.1073/pnas.85.23.9138. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Plaja A., Vidal R., Soriano D., Bou X., Vendrell T., Mediano C., Pueyo J. M., Labraña X., Sarret E. Terminal deletion of 6p: report of a new case. Ann Genet. 1994;37(4):196–199. [PubMed] [Google Scholar]
  12. Sachs E. S., Hoogeboom A. J., Niermeijer M. F., Schreuder G. M. Clinical evidence for localisation of HLA proximal of chromosome 6p22. Lancet. 1983 Mar 19;1(8325):659–659. doi: 10.1016/s0140-6736(83)91839-1. [DOI] [PubMed] [Google Scholar]
  13. Zurcher V. L., Golden W. L., Zinn A. B. Distal deletion of the short arm of chromosome 6. Am J Med Genet. 1990 Feb;35(2):261–265. doi: 10.1002/ajmg.1320350223. [DOI] [PubMed] [Google Scholar]
  14. van Swaay E., Beverstock G. C., van de Kamp J. J. A patient with an interstitial deletion of the short arm of chromosome 6. Clin Genet. 1988 Feb;33(2):95–101. doi: 10.1111/j.1399-0004.1988.tb03418.x. [DOI] [PubMed] [Google Scholar]

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

RESOURCES