title: Clinical expression of Menkes disease in a girl with X;13 translocation.
abstract: Menkes disease is a rare X-linked recessive disorder of copper metabolism, characterised by progressive neurological degeneration, abnormal hair and connective tissue manifestations. We report on a girl with classic Menkes disease, carrying a de novo balanced translocation 46,X,t(X;13)(q13.3; q14.3). The translocation breakpoints at Xq13.3 and 13q14.3 coincide with the Menkes disease and Wilson disease loci, respectively.
authors.affiliation: South Thames (East) Regional Genetics Centre, Division of Medical and Molecular Genetics, Guy's Hospital, London, United Kingdom.
authors.forename: I
authors.initials: I
authors.lastname: Abusaad
authors.forename: S N
authors.initials: SN
authors.lastname: Mohammed
authors.forename: C M
authors.initials: CM
authors.lastname: Ogilvie
authors.forename: J
authors.initials: J
authors.lastname: Ritchie
authors.forename: K R
authors.initials: KR
authors.lastname: Pohl
authors.forename: Z
authors.initials: Z
authors.lastname: Docherty
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics; D027682:Cation Transport Proteins; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D000073840:Copper-Transporting ATPases; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D006197:Hair / Q000002:abnormalities; D006527:Hepatolenticular Degeneration / Q000235:genetics / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D007706:Menkes Kinky Hair Syndrome / Q000235:genetics* / Q000473:pathology; D011993:Recombinant Fusion Proteins; D014178:Translocation, Genetic; D014960:X Chromosome / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D027682:Cation Transport Proteins; D011993:Recombinant Fusion Proteins; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; D000073840:Copper-Transporting ATPases