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Mosaic Trisomy 9p in a Patient with Mild Dysmorphic Features and Normal Intelligence. J Assoc Genet Technol 2017;43(2):56-58 PMID: 28511170

Pubmed ID

28511170

Abstract

To the Editor: Partial and whole duplications of the short arm of chromosome 9 have been commonly reported in the literature with characteristic phenotypic features and intellectual disabilities. The clinical features of 9p duplications are broad and can include growth retardation, developmental delay, intellectual disability, microbrachycephaly, deep set eyes, hypertelorism, downslanting palpebral fissures, prominent nasal root, bulbous nasal tip, low-set ears, short fingers and toes with hypoplastic nails, and delayed bone age (Bonaglia et al., 2002; Zou et al., 2009; Guilherme et al., 2014).

Author List

Brar R, Basel DG, Bick DP, Weik L, vanTuinen P, Peterson JF

Author

Donald Basel MD Chief, Associate Professor in the Pediatrics department at Medical College of Wisconsin




jenkins-FCD Prod-297 dff1a717c492f00bf6291286365f1f4fe95208f1