𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q

✍ Scribed by Matteo Della Monica; Fortunato Lonardo; Francesca Faravelli; Mauro Pierluigi; Daniela Varela Luquetti; Manuela De Gregori; Orsetta Zuffardi; Gioacchino Scarano

Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
201 KB
Volume
143A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Novel case of del(17)(q23.1q23.3) furthe
Novel case of del(17)(q23.1q23.3) further highlights a recognizable phenotype involving deletions of chromosome (17)(q21q24)
✍ 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.