Literature DB >> 2272503

The parental origin of de novo X-autosome translocations in females with Duchenne muscular dystrophy revealed by M27 beta methylation analysis.

D O Robinson1, Y Boyd, D Cockburn, M N Collinson, I Craig, P A Jacobs.   

Abstract

The parental origin of 3 de novo X-autosome translocations in females with Duchenne Muscular Dystrophy (DMD) was studied by means of methylation analysis using the X-linked probe M27 beta. In all three the translocation was found to be paternal in origin. The parental origin of X-autosome translocations in females with and without DMD is compared with other structural abnormalities of the X and with autosomal translocations.

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Year:  1990        PMID： 2272503     DOI： 10.1017/s0016672300035217

Source DB:  PubMed          Journal:  Genet Res        ISSN： 0016-6723            Impact factor:   1.588


  10 in total

1.  Molecular and cytogenetic analysis of a familial microdeletion of Xq.

Authors:  S Wells; S Mould; D Robins; D Robinson; P Jacobs
Journal:  J Med Genet       Date:  1991-03       Impact factor: 6.318

2.  X inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X;17 translocation: evidence for functional disomy of Xp.

Authors:  E Hatchwell; D Robinson; J A Crolla; A E Cockwell
Journal:  J Med Genet       Date:  1996-03       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.  A cytogenetic survey in Menkes disease: implications for the detection of chromosomal rearrangements in X linked disorders.

Authors:  N Tommerup; Z Tümer; T Tønnesen; N Horn
Journal:  J Med Genet       Date:  1993-04       Impact factor: 6.318

5.  X inactivation patterns in female monozygotic twins and their families.

Authors:  E Watkiss; T Webb; G Rysiecki; N Girdler; E Hewett; S Bundey
Journal:  J Med Genet       Date:  1994-10       Impact factor: 6.318

Review 6.  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

7.  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

8.  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

9.  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

10.  Molecular analysis of X-autosome translocations in females with Duchenne muscular dystrophy.

Authors:  S E Bodrug; J J Holden; P N Ray; R G Worton
Journal:  EMBO J       Date:  1991-12       Impact factor: 11.598
  10 in total

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