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Microdeletion 2q23.3q24.1: Exploring genotype-phenotype correlations

✍ Scribed by Milani, Donatella; Sabatini, Caterina; Manzoni, Francesca Maria Paola; Ajmone, Paola Francesca; Rigamonti, Claudia; Malacarne, Michela; Pierluigi, Mauro; Cavani, Simona; Costantino, Maria Antonella


Book ID
127152372
Publisher
John Wiley and Sons
Year
2015
Tongue
English
Weight
648 KB
Volume
55
Category
Article
ISSN
0914-3505

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Novel case of del(17)(q23.1q23.3) furthe
✍ Mickelson, Elizabeth C. R.; Robinson, Wendy P.; Hrynchak, Monica A.; Lewis, M.E. πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 40 KB πŸ‘ 2 views

We report on a girl with a phenotype and developmental profile initially suggestive of Angelman syndrome. Subsequently she was shown to have an interstitial deletion of the long arm of chromosome 17; [del(17)-(q23.1q23.3)], the smallest unique cytogenetic deletion in this region documented to date.