X;1 translocation in a female Menkes patient: characterization by fluorescence in situ hybridization

J Beck, H Enders, M Schliephacke, M Buchwald-Saal, Z Tümer

27 Citations (Scopus)

Abstract

Menkes disease is an X-linked recessive disorder of copper metabolism, characterized by progressive neurological degeneration, abnormal hair and connective tissue manifestations. We present a female Menkes patient, with classical Menkes features, carrying a de novo balanced translocation 46,X,t(X;1)(q13;q12). The breakpoint on the X chromosome was narrowed down to Xq13.3 within a 1 Mb YAC contig containing the Menkes gene, using fluorescence in situ hybridization. The translocated X chromosome was of paternal origin and non-randomly active leading to the expression of the disease. This was additional evidence for paternal origin of de novo chromosome rearrangements, including all the X; autosomal translocations examined so far.

Original languageEnglish
JournalClinical Genetics
Volume46
Issue number4
Pages (from-to)295-8
Number of pages4
ISSN0009-9163
DOIs
Publication statusPublished - Oct 1994
Externally publishedYes

Keywords

  • Chromosomes, Artificial, Yeast
  • Chromosomes, Human, Pair 1
  • Dosage Compensation, Genetic
  • Fathers
  • Female
  • Genomic Imprinting
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant, Newborn
  • Karyotyping
  • Menkes Kinky Hair Syndrome/genetics
  • Translocation, Genetic
  • X Chromosome

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