Molecular and cytogenetic characterizati
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Sebastio, Gianfranco; Perone, Lucia; Guzzetta, Vito; Sebastio, Lucia; Vicari, La
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Article
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1996
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John Wiley and Sons
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English
⚖ 45 KB
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We report on an aneuploidy syndrome due to the unbalanced segregation of a familial translocation (4;21)(p16.3;q22.1) causing a partial 4p monosomy and a partial 21q trisomy. The three affected children presented with severe failure to thrive, short stature, microcephaly, profound hypotonia, and men