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

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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.

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 wi...

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

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...

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ژورنال

عنوان ژورنال: Journal of Medical Genetics

سال: 1990

ISSN: 1468-6244

DOI: 10.1136/jmg.27.7.426