A cytogenetic survey in Menkes disease: implications for the detection of chromosomal rearrangements in X linked disorders.

type, involving a unique rearrangement of the X chromosome with an insertion of the long arm segment Xql3.3-q21.2 into the short arm at band Xpl 1.4, karyotype 46,XY,ins(X) (p 1 1.4q1 3.3q21.2)mat. The rearrangement was not associated with a cytogenetically detectable deletion of chromosomal material. The same rearranged X chromosome was present de novo in his phenotypically normal mother, in whom it was preferentially inactivated and of paternal origin. Details are reported elsewhere.5