Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay
β Scribed by M. Balasubramanian; J.P.H. Shield; C.L. Acerini; J. Walker; S. Ellard; M. Marchand; M. Polak; M. Vaxillaire; J.A. Crolla; D.J. Bunyan; D.J.G. Mackay; I.K. Temple
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 214 KB
- Volume
- 152A
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## Abstract Distal interstitial deletions of chromosome 14 involving the 14q24βq23.2 region are rare, and only been reported so far in 20 patients. Ten of these patients were analyzed both clinically and genetically. Here we present a de novo interstitial deletion of chromosome 14q24.3βq32.2 in a m
## Abstract We report on a girl with mosaicism (65%) of a de novo supernumerary ring chromosome 7. The main clinical features were delayed psychomotor development, congenital heart defect, facial dysmorphisms, and long hands, fingers, feet and toes. Molecular cytogenetic analysis revealed that the