𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Unbalanced translocation (3;5)(q26.1;p14): A clinical report

✍ 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

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


3:1 Meiotic disjunction in a mother with
✍ Abeliovich, Dvorah ;Yagupsky, Pablo ;Bashan, Nava ;Opitz, John M. πŸ“‚ Article πŸ“… 1982 πŸ› John Wiley and Sons 🌐 English βš– 439 KB πŸ‘ 1 views

## 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

Molecular and cytogenetic characterizati
✍ Sebastio, Gianfranco; Perone, Lucia; Guzzetta, Vito; Sebastio, Lucia; Vicari, La πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 45 KB πŸ‘ 2 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