2q31.2q32.3 deletion syndrome: Report of an adult patient
โ Scribed by Paolo Prontera; Laura Bernardini; Gabriela Stangoni; Anna Capalbo; Daniela Rogaia; Carmela Ardisia; Antonio Novelli; Bruno Dallapiccola; Emilio Donti
- Book ID
- 102701467
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 685 KB
- Volume
- 149A
- Category
- Article
- ISSN
- 1552-4825
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๐ SIMILAR VOLUMES
We report on 2 patients with de novo proximal interstitial deletions of the long arm of chromosome 4: in one the deletion resulted in monosomy (4)(q21.3q23), in the other it produced monosomy (4)(q13.2q23). Review of 9 cases of deletions involving the 4q21/ 4q22 region reported previously detected a
In a new case of interstitial del(2q), measurements of ribulose 5-phosphate 3-epimerase activity suggested that the locus for this enzyme might be localized to the subregion 2q32----q33.3.