Monosomy 18q syndrome and atypical Rett
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Gustavsson, Peter; Kimber, Eva; WahlstrοΏ½m, Jan; AnnerοΏ½n, GοΏ½ran
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Article
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1999
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John Wiley and Sons
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English
β 25 KB
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We describe a 6 1/2-year-old girl with an interstitial deletion of chromosome arm 18q (18q21.1q22.3). Her clinical manifestations are a combination of those found in monosomy 18q syndrome and those of Rett syndrome. Cytogenetic analysis demonstrated a deletion of the long arm of chromosome 18, defin