title: Combined immunodeficiency in a 3-year-old boy with 16p11.2 and 20p12.2-11.2 chromosomal duplications.
abstract: We report for the first time on a 3-year-old boy with paternally inherited 212.85 kb-16p11.2 and 7.8 Mb-20p12.2-11.23 interstitial microduplications associated with having congenital cardiac defect, dysmorphic facial features, and combined T-, B-, and NK cell immunodeficiency. In addition the 7.8 Mb-20p12.2-11.23 microduplication is unique showing novel breakpoints among all partial trisomy/duplication 20p reported to date, narrowing down the critical region for trisomy 20p syndrome.
authors: Division of Molecular Cytogenetics Laboratory, Saint Louis University Medical Center, St. Louis, Missouri; Department of Pediatrics, Saint Louis University Medical Center, St. Louis, Missouri.
authors: Jacqueline R
authors: JR
authors: Batanian
authors: Stephen R
authors: SR
authors: Braddock
authors: Katherine
authors: K
authors: Christensen
authors: Alan P
authors: AP
authors: Knutsen
mesh_terms: D000328:Adult; D002675:Child, Preschool; D058674:Chromosome Duplication; D002885:Chromosomes, Human, Pair 16; D002890:Chromosomes, Human, Pair 20; D055028:Comparative Genomic Hybridization; D019066:Facies; D006801:Humans; D008297:Male; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology*
keywords: 16p11.2 duplication; 20p12.2-11.23 duplication; combined immunodeficiency; congenital heart disease; partial trisomy 20p syndrome