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Macrocerebellum, epilepsy, intellectual disability, and gut malrotation in a child with a 16q24.1-q24.2 contiguous gene deletion

✍ Scribed by Seeley, Andrea H.; Durham, Mark A.; Micale, Mark A.; Wesolowski, Jeffrey; Foerster, Bradley R.; Martin, Donna M.

Book ID
121815613
Publisher
John Wiley and Sons
Year
2014
Tongue
English
Weight
181 KB
Volume
164
Category
Article
ISSN
1552-4825

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A small deletion of 16q23.1β†’16q24.2 [del
A small deletion of 16q23.1β†’16q24.2 [del(16)(q23.1q24.2).ish del(16)(q23.1q24.2)(D16S395+, D16S348βˆ’, P5432+)] in a boy with iris coloboma and minor anomalies
✍ Werner, Walter; Kraft, Sabine; Callen, David F.; Bartsch, Oliver; Hinkel, Georg πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 662 KB

We report on a 5-year-old boy with bilateral coloboma of iris, short stature, moderate developmental delay, and a few minor craniofacial anomalies. High-resolution GTG banding showed a small distal deletion of one chromosome 16 [del( 16)(q23.1q24.2)]. Molecular refinement of the deletion breakpoints