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Down syndrome critical region around D21S55 on proximal 21q22.3

✍ Scribed by Rahmani, Zohra ;Blouin, Jean-Louis ;Créau-Goldberg, Nicole ;Watkins, Paul C. ;Mattei, Jean-François ;Poissonnier, Marc ;Prieur, Marguerite ;Chettouh, Zoubida ;Nicole, Annie ;Aurias, Alain ;Sinet, Pierre-Marie ;Delabar, Jean-Maurice


Book ID
102700378
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
586 KB
Volume
37
Category
Article
ISSN
0148-7299

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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