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Pathogenic significance of deletions distal to the currently described Wolf–Hirschhorn syndrome critical regions on 4p16.3

✍ Scribed by Sarah T. South; Femke Hannes; Gene S. Fisch; Joris Robert Vermeesch; Marcella Zollino


Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
132 KB
Volume
148C
Category
Article
ISSN
1552-4868

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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