Article
Ring chromosome X in a child with manifestations of Kabuki syndrome.
American journal of medical genetics - 2 May 1997
McGinniss M J, Brown D H, Burke L W, Mascarello J T, Jones M C
Abstract excerpt
A female patient with the karyotype 45,X/46, X, r(X)(p11.2 q13) and severe developmental delay, prominent fingertip pads, long palpebral fissures, short stature, and history of hypotonia had a phenotype reminiscent of Kabuki syndrome. We hypothesized that overexpression of X chromosome-derived sequences might be associated with the Kabuki-like phenotype observed. The nature and parental origin of this small-ring...
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