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Biomedical subjects

M Moncrieff

Publications and source records attributed to M Moncrieff.

5 recordsLinked to original sources

Fanconi syndrome after ifosfamide.

A 2-year-old boy developed the Fanconi syndrome 1 year after being treated successfully for a neuroblastoma. This is probably an unusual complication of ifosfamide.

Child, Preschool

Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm.

A unique combination of a Duchenne-like muscular dystrophy in a girl with a translocation-inversion rearrangement involving an X chromosome and a no 1 chromosome appeared as a result of both gene mutation and chromosome mutation in the mother. The X-autosome rearrangement would permit full expression of an X-linked recessive gene, such as that for Duchenne muscular dystrophy, in a female, and this would satisfactorily explain the characteristic Duchenne-like course of our patient's illness. The simultaneous de novo appearance of the Duchenne mutation and the X;1 rearrange suggests possible sites for the Duchenne locus on the X chromosome short arm (at Xp1106 or Xp2107).

Child

Rickets.

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Adolescent