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PMID: 2879921 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Paternal inheritance of translocation chromosomes in a t(X;21) patient with X linked muscular dystrophy.

Journal of medical genetics ·Vol. 23 ·No. 6 ·1986-12-00 ·Pages 491-3

Kean VM, Macleod HL, Thompson MW, Ray PN, Verellen-Dumoulin C, Worton RG

Abstract

A number of DNA probes from the short arm of the X chromosome have been used to study the inheritance of the translocation chromosomes in a girl with an X; autosome translocation and muscular dystrophy. The two translocation chromosomes were found to be derived from the father's single normal X chromosome, ruling out maternal inheritance of a pre-existent mutation and enhancing the concept that the de novo translocation is responsible for the dystrophic phenotype.

MeSH Terms

Chromosomes, Human, Pair 21 Female Genetic Linkage Humans Muscular Dystrophies/genetics Polymorphism, Restriction Fragment Length Translocation, Genetic X Chromosome

Authors & Affiliations

6 authors, click to expand affiliations / ORCID

Kean V M

Macleod H L

Thompson M W

Ray P N

Verellen-Dumoulin C

Worton R G

References (12)

12 references, click to expand

Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm.
J Med Genet. 1979 Oct;16(5):389-92 PMID: 513085
Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21.
Am J Hum Genet. 1981 Jul;33(4):513-8 PMID: 7258185
Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus.
J Med Genet. 1981 Dec;18(6):442-7 PMID: 7334502
Further evidence for Xp21 location of Duchenne muscular dystrophy (DMD) locus: X;9 translocation in a female with DMD.
J Med Genet. 1983 Dec;20(6):461-3 PMID: 6655672
Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase.
Science. 1984 Jun 8;224(4653):1068-74 PMID: 6372096
Cytogenetic heterogeneity of translocations associated with Duchenne muscular dystrophy.
Clin Genet. 1986 Feb;29(2):108-15 PMID: 3955860
A strategy to reveal high-frequency RFLPs along the human X chromosome.
Am J Hum Genet. 1984 May;36(3):546-64 PMID: 6328976
Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome.
Hum Genet. 1984;67(1):115-9 PMID: 6745920
Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy.
Hum Genet. 1985;70(2):148-56 PMID: 2989153
Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment.
Nature. 1985 Aug 29-Sep 4;316(6031):842-5 PMID: 2993910
Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy.
Nature. 1985 Dec 19-1986 Jan 1;318(6047):672-5 PMID: 3001530
Duchenne muscular dystrophy involving translocation of the dmd gene next to ribosomal RNA genes.
Science. 1984 Jun 29;224(4656):1447-9 PMID: 6729462

Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

0022-2593

DOI

10.1136/jmg.23.6.491

Published

1986-12-00

Pages

491-3

Language

English

Region

England

NLM ID

2985087R

PMCID

PMC1049828

Subset

External Links

PubMed source DOI: 10.1136/jmg.23.6.491 PMC Full Text View journal details

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Paternal inheritance of translocation chromosomes in a t(X;21) patient with X linked muscular dystrophy.

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