Beck J, Enders H, Schliephacke M, Buchwald-Saal M, Tümer Z
Department of Developmental Medicine, Children's Hospital, University of Tübingen, Germany.
Clin Genet. 1994 Oct;46(4):295-8. doi: 10.1111/j.1399-0004.1994.tb04163.x.
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.
门克斯病是一种X连锁隐性铜代谢紊乱疾病，其特征为进行性神经退行性变、毛发异常和结缔组织表现。我们报告了一名具有典型门克斯病特征的女性患者，她携带一条新发的平衡易位染色体46,X,t(X;1)(q13;q12)。利用荧光原位杂交技术，X染色体上的断裂点被定位到包含门克斯基因的1 Mb酵母人工染色体（YAC）重叠群内的Xq13.3。易位的X染色体源自父方且非随机活跃，导致了疾病的表达。这为新发染色体重排包括迄今所检测的所有X;常染色体易位的父方起源提供了额外证据。
