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A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies

✍ Scribed by Daniel R. Jensen; Donna M. Martin; Stephen Gebarski; Trilochan Sahoo; Ellen K. Brundage; A. Craig Chinault; Edgar A. Otto; Moumita Chaki; Friedhelm Hildebrandt; Sau Wai Cheung; Marci M. Lesperance


Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
281 KB
Volume
149A
Category
Article
ISSN
1552-4825

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## Abstract We describe a patient with multiple congenital anomalies including tracheobronchomalacia, CT‐proven metopic craniosynostosis, glandular hypospadias and severe ventral chordee, torticollis, esotropia, strabismus, fifth finger clinodactyly, hallux valgus, and global developmental delay. U