title: 20q13.2-q13.33 deletion syndrome: A case report.
abstract: We report a 32-month-old female of Peruvian ethnicity identified with a rare 20q13.2-q13.33 deletion using microarray analysis. She presented with intellectual disability, absent speech, hypotonia, pre- and post-natal growth retardation and an abnormal face with a unilateral cleft lip. Clinical features and genetic findings with the loss of 30 genes, includingGNAS, MC3R, CDH4andTFAP2C, are described in relationship to the very few cases of 20q13 deletion reported in the literature. Deletion of this region may play an important role in neurodevelopment and function and in causing specific craniofacial features.
authors.affiliation: Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, KS, USA.
authors.forename: Merlin G
authors.initials: MG
authors.lastname: Butler
authors.affiliation: Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, KS, USA.
authors.forename: Kelly M
authors.initials: KM
authors.lastname: Usrey
authors.affiliation: Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, KS, USA.
authors.forename: Jennifer L
authors.initials: JL
authors.lastname: Roberts
authors.affiliation: Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, KS, USA.
authors.forename: Ann M
authors.initials: AM
authors.lastname: Manzardo
authors.affiliation: Kansas University Center on Developmental Disabilities, Schiefelbusch Institute for Life Span Studies, University of Kansas, Lawrence, KS, USA.
authors.forename: Stephen R
authors.initials: SR
authors.lastname: Schroeder
keywords: 20q13 deletion; Microarray analysis; atypical development; cleft lip; dysmorphic features; intellectual disability