Unbalanced translocation (3;5)(q26.1;p14): A clinical report
β Scribed by Rossi, Massimiliano ;Di Micco, Pasqua ;Perone, Lucia ;De Brasi, Daniele ;Guzzetta, Vito ;Andreucci, Maria Vittoria ;Vega, Giovanna Roberta ;Marzano, Maria Grazia ;Iaccarino, Emilia ;Andria, Generoso
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 179 KB
- Volume
- 110
- Category
- Article
- ISSN
- 0148-7299
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## Abstract We describe the family of a balanced translocation carrier mother with the karyotype 46,XX,t(5,14)(p15,q13). In two of her five children 1:3 segregation occurred, resulting in del (14q) and dup (14q). The propositus with the dup (14q) has some of the typical manifestations of this syndr
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