Literature DB >> 3712394

Duchenne muscular dystrophy in a female with a translocation involving Xp21.

N C Nevin, A E Hughes, M Calwell, J H Lim.   

Abstract

A female with Duchenne muscular dystrophy, diagnosed at the age of 3 years 8 months, is reported. Chromosome studies revealed an X;autosome reciprocal translocation t(X;5) (p21.2;q31.2). With the BrdU-Hoechst 33258-Giemsa technique, there was nonrandom preferential inactivation of the normal X. Our patient is the ninth reported case of Duchenne muscular dystrophy associated with an X;autosome translocation. In all cases the breakpoint in the X chromosome is in band p21 at or near the site of the DMD gene.

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Mesh：

Year:  1986        PMID： 3712394      PMCID： PMC1049575          DOI： 10.1136/jmg.23.2.171

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


  8 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.  An (X;11) translocation in a girl with Duchenne muscular dystrophy. Repository identification No. GM1695.

Authors:  R M Greenstein; M P Reardon; T S Chan; A B Middleton; R A Mulivor; A E Greene; L L Coriell
Journal:  Cytogenet Cell Genet       Date:  1980

3.  Late replicating bands of human chromosomes demonstrated by fluorochrome and Giemsa staining.

Authors:  K H Grzeschik; M A Kim; R Johannsmann
Journal:  Humangenetik       Date:  1975-08-29

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.  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

6.  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

7.  Turner's syndrome and Duchenne muscular dystrophy in a girl with an X; autosome translocation.

Authors:  L Bjerglund Nielsen; I M Nielsen
Journal:  Ann Genet       Date:  1984

8.  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
  8 in total
  5 in total

1.  The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes.

Authors:  S M Gribble; E Prigmore; D C Burford; K M Porter; Bee Ling Ng; E J Douglas; H Fiegler; P Carr; D Kalaitzopoulos; S Clegg; R Sandstrom; I K Temple; S A Youings; N S Thomas; N R Dennis; P A Jacobs; J A Crolla; N P Carter
Journal:  J Med Genet       Date:  2005-01       Impact factor: 6.318

Review 2.  Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy.

Authors:  Emanuela Viggiano; Manuela Ergoli; Esther Picillo; Luisa Politano
Journal:  Hum Genet       Date:  2016-04-21       Impact factor: 4.132

3.  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

4.  Mapping of X chromosome translocation breakpoints in females with Duchenne muscular dystrophy with respect to exons of the dystrophin gene.

Authors:  D J Cockburn; E A Munro; I W Craig; Y Boyd
Journal:  Hum Genet       Date:  1992-12       Impact factor: 4.132

5.  Sequence analysis of the breakpoint regions of an X;5 translocation in a female with Duchenne muscular dystrophy.

Authors:  I van Bakel; S Holt; I Craig; Y Boyd
Journal:  Am J Hum Genet       Date:  1995-08       Impact factor: 11.025
  5 in total

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