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
✦ LIBER ✦
The new Wolf–Hirschhorn syndrome critical region (WHSCR-2): A description of a second case
✍ Scribed by Laura Rodríguez; Marcella Zollino; Salvador Climent; Elena Mansilla; Fermina López-Grondona; María Luisa Martínez-Fernández; Marina Murdolo; María Luisa Martínez-Frías
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 176 KB
- Volume
- 136A
- Category
- Article
- ISSN
- 1552-4825
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