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Choroideremia, congenital deafness and mental retardation in a family with an X chromosomal deletion.
Ophthalmic Paediatr Genet. 1987 Nov; 8(3):139-43.OP

Abstract

An interstitial deletion of the proximal part of the long arm of the X chromosome was found in two brothers both suffering from choroideremia, congenital deafness and mental retardation. The mother was subsequently found to be heterozygous for the deletion, and to have the typical ophthalmological phenotype of a choroideremia carrier together with an elevated stapedial reflex threshold. Syndromes including choroideremia seem to be composed of characteristics which, independent of each other, occur as X-linked traits. Since this deletion covers part of the region Xq21.1-Xq21.31 it is postulated that besides the locus for choroideremia this region harbors a locus for X-linked congenital deafness and possibly a locus for X-linked mental retardation.

Authors+Show Affiliations

National Eye Clinic for the Visually Impaired, Copenhagen, Denmark.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

3438052

Citation

Rosenberg, T, et al. "Choroideremia, Congenital Deafness and Mental Retardation in a Family With an X Chromosomal Deletion." Ophthalmic Paediatrics and Genetics, vol. 8, no. 3, 1987, pp. 139-43.
Rosenberg T, Niebuhr E, Yang HM, et al. Choroideremia, congenital deafness and mental retardation in a family with an X chromosomal deletion. Ophthalmic Paediatr Genet. 1987;8(3):139-43.
Rosenberg, T., Niebuhr, E., Yang, H. M., Parving, A., & Schwartz, M. (1987). Choroideremia, congenital deafness and mental retardation in a family with an X chromosomal deletion. Ophthalmic Paediatrics and Genetics, 8(3), 139-43.
Rosenberg T, et al. Choroideremia, Congenital Deafness and Mental Retardation in a Family With an X Chromosomal Deletion. Ophthalmic Paediatr Genet. 1987;8(3):139-43. PubMed PMID: 3438052.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Choroideremia, congenital deafness and mental retardation in a family with an X chromosomal deletion. AU - Rosenberg,T, AU - Niebuhr,E, AU - Yang,H M, AU - Parving,A, AU - Schwartz,M, PY - 1987/11/1/pubmed PY - 1987/11/1/medline PY - 1987/11/1/entrez SP - 139 EP - 43 JF - Ophthalmic paediatrics and genetics JO - Ophthalmic Paediatr Genet VL - 8 IS - 3 N2 - An interstitial deletion of the proximal part of the long arm of the X chromosome was found in two brothers both suffering from choroideremia, congenital deafness and mental retardation. The mother was subsequently found to be heterozygous for the deletion, and to have the typical ophthalmological phenotype of a choroideremia carrier together with an elevated stapedial reflex threshold. Syndromes including choroideremia seem to be composed of characteristics which, independent of each other, occur as X-linked traits. Since this deletion covers part of the region Xq21.1-Xq21.31 it is postulated that besides the locus for choroideremia this region harbors a locus for X-linked congenital deafness and possibly a locus for X-linked mental retardation. SN - 0167-6784 UR - https://wwww.unboundmedicine.com/medline/citation/3438052/Choroideremia_congenital_deafness_and_mental_retardation_in_a_family_with_an_X_chromosomal_deletion_ L2 - http://www.diseaseinfosearch.org/result/2125 DB - PRIME DP - Unbound Medicine ER -