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Familial t (4;21)(q2.4;q2.2) leading to unbalanced offspring with partial duplication of 4q and of 21q without manifestations of the down syndrome

โœ Scribed by Kitsiou-Tzeli, Sophia ;Hallett, Joseph J. ;Atkins, Leonard ;Latt, Samuel A. ;Holmes, Lewis B. ;Opitz, John M. ;Reynolds, James F.


Publisher
John Wiley and Sons
Year
1984
Tongue
English
Weight
293 KB
Volume
18
Category
Article
ISSN
0148-7299

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Molecular and cytogenetic characterizati
โœ Sebastio, Gianfranco; Perone, Lucia; Guzzetta, Vito; Sebastio, Lucia; Vicari, La ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 45 KB ๐Ÿ‘ 3 views

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