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PMID: 2323779 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

Choroideremia associated with an X-autosomal translocation.

Human genetics ·Vol. 84 ·No. 5 ·1990-04-00 ·Pages 459-64

Siu VM, Gonder JR, Jung JH, Sergovich FR, Flintoff WF

Abstract

A patient with mild choroideremia has been shown to carry a balanced translocation between chromosome X and 13-46,X,t(X;13)(q21.2;p12). Loci (DXY21, DX232, DX233) shown to map to this region on the X chromosome and in some cases to be deleted in other patients with choroideremia are intact in the DNA from this patient. To our knowledge this is the first report of a translocation associated with choroideremia. One of the translocation chromosomes, derivative 13, free of the derivative X and normal X, has been isolated in a somatic cell hybrid. Because of the clinical association of the eye findings with chromosome interchange, we suggest that the breakpoint on the X is at or near the choroideremia locus. Further analysis of this translocation may be useful in cloning the choroideremia gene.

MeSH Terms

Adult Choroideremia/genetics Chromosome Banding Chromosomes, Human, Pair 13 DNA Probes Female Genetic Linkage Humans Karyotyping Translocation, Genetic X Chromosome

Chemicals

DNA Probes

Authors & Affiliations

5 authors, click to expand affiliations / ORCID

Siu V M

Department of Paediatrics, Children's Hospital of Western Ontario, London, Canada.

Gonder J R

Jung J H

Sergovich F R

Flintoff W F

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26 references, click to expand

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Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00195820

Published

1990-04-00

Pages

459-64

Language

English

Region

Germany

NLM ID

7613873

PMCID

PMC7087745

Subset

External Links

PubMed source DOI: 10.1007/BF00195820 PMC Full Text View journal details

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Choroideremia associated with an X-autosomal translocation.

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