Literature DB >> 4077054

High-resolution banding study of an X/4 translocation in a female with Duchenne muscular dystrophy.

F Saito, A Tonomura, S Kimura, N Misugi, H Sugita.   

Abstract

A rare female case of Duchenne muscular dystrophy with an X/4 translocation was found. Detailed cytogenetic analyses by R-banding and high-resolution G-banding techniques revealed that the exchange point involved in the translocation was at the p21.1 band on the X chromosome.

Entities:  

Mesh：

Year:  1985        PMID： 4077054     DOI： 10.1007/BF00388468

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  9 in total

1.  Replication pattern of the X chromosomes in three X/autosomal translocations.

Authors:  A Hagemeijer; J Hoovers; E M Smit; D Bootsma
Journal:  Cytogenet Cell Genet       Date:  1977

2.  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

3.  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

4.  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

5.  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

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.  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

9.  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
  9 in total
  3 in total

Review 1.  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

2.  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

3.  De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophy.

Authors:  J Chelly; F Marlhens; B Le Marec; M Jeanpierre; M Lambert; G Hamard; B Dutrillaux; J C Kaplan
Journal:  Hum Genet       Date:  1986-10       Impact factor: 4.132
  3 in total

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