1990
DOI: 10.1136/jmg.27.7.426
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Prenatal identification of a girl with a t(X;4)(p21;q35) translocation: molecular characterisation, paternal origin, and association with muscular dystrophy.

Abstract: There are 23 females known with Duchenne or Becker muscular dystrophy (DMD or BMD) who have X;autosome translocations that disrupt the X chromosome within band p21. A female with a t(X;4)(p21;q35) translocation was identified prenatally at routine amniocentesis. At birth, she was found to have a raised CK level, consistent with a diagnosis of Duchenne muscular dystrophy. Her cells were fused with mouse RAG cells and the translocated chromosomes were separated from one another and from the normal X chromosome… Show more

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Cited by 27 publications
(21 citation statements)
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“…An abnormal phenotype can be associated with a de novo apparently balanced rearrangements, which may be the result of chromosome breakage disrupting a gene leading to abnormal gene expression or the presence of a submicroscopic deletion or duplication. Chromosome rearrangements that disrupt, inactivate, or activate genes at the breakpoints have been reported in a proportion of cases (Bodrug et al 1990;Hearn et al 2002;Pichon et al 2004). The change of location and/or orientation of translocated genes can also influence the activity of regulatory sequences co-operating with the breakpoint flanking translocated genes.…”
Section: Introductionmentioning
confidence: 98%
“…An abnormal phenotype can be associated with a de novo apparently balanced rearrangements, which may be the result of chromosome breakage disrupting a gene leading to abnormal gene expression or the presence of a submicroscopic deletion or duplication. Chromosome rearrangements that disrupt, inactivate, or activate genes at the breakpoints have been reported in a proportion of cases (Bodrug et al 1990;Hearn et al 2002;Pichon et al 2004). The change of location and/or orientation of translocated genes can also influence the activity of regulatory sequences co-operating with the breakpoint flanking translocated genes.…”
Section: Introductionmentioning
confidence: 98%
“…An abnormal phenotype associated with an apparently balanced rearrangements may be attributed to: (i) chromosome rearrangements that disrupt, inactivate, or activate genes at the breakpoints or cause the expression of a recessive gene (Bodrug et al 1990;Hearn et al 2002;Pichon et al 2004), (ii) position effect with variable expression of genes near the translocation breakpoint (Kleinjan and van Heyningen 2005), (iii) the rearrangement may host 'cryptic' imbalance. CCRs with cryptic imbalances are usually associated with phenotypic abnormalities (Tyson et al 2004;Cheung et al 2005;Gribble et al 2005;Borg et al 2007).…”
Section: Submicroscopic Imbalances and Array-cghmentioning
confidence: 99%
“…A small number of females are affected and 23 such patients have been found to have a de novo reciprocal Xautosome translocation with one breakpoint in the Xp21 region, the autosomal breakpoints being variable (Boyd et al 1986). The parental origin of five such de novo X-autosome translocations has been determined using cytogenetic analysis, RFLP analysis of somatic cell hybrids or DNA analysis using probes from the dystrophin gene (Bjerglund-Nielsen et al 1984;Kean et al 1986;Ribiero et al 1986;Bodrug et al 1990). The parental origin of five such de novo X-autosome translocations has been determined using cytogenetic analysis, RFLP analysis of somatic cell hybrids or DNA analysis using probes from the dystrophin gene (Bjerglund-Nielsen et al 1984;Kean et al 1986;Ribiero et al 1986;Bodrug et al 1990).…”
Section: Introductionmentioning
confidence: 99%