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Deletion (14) (q24.3q32.1): Evidence for a distinct clinical phenotype

✍ Scribed by Karnitis, Sue A. ;Burns, Kathy ;Sudduth, Kathy W. ;Golden, Wendy L. ;Wilson, William G.


Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
356 KB
Volume
44
Category
Article
ISSN
0148-7299

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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.