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A de novo 22q11.22q11.23 interchromosomal tandem duplication in a boy with developmental delay, hyperactivity, and epilepsy

✍ Scribed by Keiko Shimojima; Katsumi Imai; Toshiyuki Yamamoto

Publisher: John Wiley and Sons
Year: 2010
Tongue: English
Weight: 224 KB
Volume: 152A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.33658

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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