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Cytogenetic and molecular characterization of a partial trisomy 2p arising from inverted duplication of 2p with terminal deletion of 2pter

✍ Scribed by Carlos A. Tirado; Samuel Henderson; Naseem Uddin; Ewa Stewart; Santha Iyer; Ian M. Ratner; Erin Matthews; Jeffrey Doolittle; Rolando Garcia; Federico Valdez; Stephanie Dallaire; Taylor Appleberry; Deborah Payne; Robert Collins

Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 201 KB
Volume: 149A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.33080

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## Abstract Deletion 3p syndrome is associated with characteristic facial features, growth failure, and mental retardation. Typically, individuals with deletion 3p syndrome have terminal deletions that result in loss of material from 3p25 to 3pter. We present a child with a clinical phenotype consi