Literature DB >> 2879921

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

V M Kean, H L Macleod, M W Thompson, P N Ray, C Verellen-Dumoulin, R G Worton.   

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.

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Year:  1986        PMID： 2879921      PMCID： PMC1049828          DOI： 10.1136/jmg.23.6.491

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  12 in total

1.  Further evidence for Xp21 location of Duchenne muscular dystrophy (DMD) locus: X;9 translocation in a female with DMD.

Authors:  B S Emanuel; E H Zackai; S H Tucker
Journal:  J Med Genet       Date:  1983-12       Impact factor: 6.318

2.  A strategy to reveal high-frequency RFLPs along the human X chromosome.

Authors:  J Aldridge; L Kunkel; G Bruns; U Tantravahi; M Lalande; T Brewster; E Moreau; M Wilson; W Bromley; T Roderick
Journal:  Am J Hum Genet       Date:  1984-05       Impact factor: 11.025

3.  Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy.

Authors:  M H Hofker; M C Wapenaar; N Goor; E Bakker; G J van Ommen; P L Pearson
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

4.  Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21.

Authors:  P A Jacobs; P A Hunt; M Mayer; R D Bart
Journal:  Am J Hum Genet       Date:  1981-07       Impact factor: 11.025

5.  Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase.

Authors:  A L Horwich; W A Fenton; K R Williams; F Kalousek; J P Kraus; R F Doolittle; W Konigsberg; L E Rosenberg
Journal:  Science       Date:  1984-06-08       Impact factor: 47.728

6.  Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus.

Authors:  M Zatz; A M Vianna-Morgante; P Campos; A J Diament
Journal:  J Med Genet       Date:  1981-12       Impact factor: 6.318

7.  Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome.

Authors:  C Verellen-Dumoulin; M Freund; R De Meyer; C Laterre; J Frédéric; M W Thompson; V D Markovic; R G Worton
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

8.  Cytogenetic heterogeneity of translocations associated with Duchenne muscular dystrophy.

Authors:  Y Boyd; V J Buckle
Journal:  Clin Genet       Date:  1986-02       Impact factor: 4.438

9.  Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment.

Authors:  A P Monaco; C J Bertelson; W Middlesworth; C A Colletti; J Aldridge; K H Fischbeck; R Bartlett; M A Pericak-Vance; A D Roses; L M Kunkel
Journal:  Nature       Date:  1985 Aug 29-Sep 4       Impact factor: 49.962

10.  Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm.

Authors:  R H Lindenbaum; G Clarke; C Patel; M Moncrieff; J T Hughes
Journal:  J Med Genet       Date:  1979-10       Impact factor: 6.318
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  6 in total

1.  Types, rates, origin and expressivity of chromosome mutations involving 13q14 in retinoblastoma patients.

Authors:  Y Ejima; M S Sasaki; A Kaneko; H Tanooka
Journal:  Hum Genet       Date:  1988-06       Impact factor: 4.132

2.  Prenatal identification of a girl with a t(X;4)(p21;q35) translocation: molecular characterisation, paternal origin, and association with muscular dystrophy.

Authors:  S E Bodrug; J R Roberson; L Weiss; P N Ray; R G Worton; D L Van Dyke
Journal:  J Med Genet       Date:  1990-07       Impact factor: 6.318

Review 3.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

4.  Muscular dystrophy in girls with X;autosome translocations.

Authors:  Y Boyd; V Buckle; S Holt; E Munro; D Hunter; I Craig
Journal:  J Med Genet       Date:  1986-12       Impact factor: 6.318

5.  Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion.

Authors:  J P Giacalone; U Francke
Journal:  Am J Hum Genet       Date:  1992-04       Impact factor: 11.025

6.  Linkage analysis of polymorphisms within the DNA fragment XJ cloned from the breakpoint of an X;21 translocation associated with X linked muscular dystrophy.

Authors:  M W Thompson; P N Ray; B Belfall; C Duff; C Logan; I Oss; R G Worton
Journal:  J Med Genet       Date:  1986-12       Impact factor: 6.318
  6 in total

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