Ring chromosome X in a child with manife
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McGinniss, Matthew J.; Brown, David H.; Burke, Leah W.; Mascarello, James T.; Jo
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Article
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1997
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John Wiley and Sons
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English
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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 seque