X;1 translocation in a female Menkes patient: characterization by fluorescence in situ hybridization.
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.
Department of Developmental Medicine, Children's Hospital, University of Tübingen, Germany.
J
J
Beck
H
H
Enders
M
M
Schliephacke
M
M
Buchwald-Saal
Z
Z
Tümer
D018244:Chromosomes, Artificial, Yeast; D002878:Chromosomes, Human, Pair 1; D004303:Dosage Compensation, Genetic; D005220:Fathers; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D007706:Menkes Kinky Hair Syndrome / Q000235:genetics*; D014178:Translocation, Genetic; D014960:X Chromosome