title: De novo 16p deletion: ATR-16 syndrome.
abstract: We describe a child with alpha-thalassemia ascertained by newborn screening. Evaluation at 9 months of age showed minor anomalies and developmental delay. Chromosomal analysis demonstrated a de novo deletion of the most distal portion of the short arm of chromosome 16, which contains the alpha-globin genes. Analysis of the alpha-globin locus by Southern blot analysis did not demonstrate altered band sizes at this locus; however, analysis of the films using densitometry confirmed hemizygosity. This is the fifth reported case of the ATR-16 syndrome (alpha-thalassemia retardation-16) not complicated by duplication or deletion of other chromosomes.
authors.affiliation: Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905, USA.
authors.forename: N M
authors.initials: NM
authors.lastname: Lindor
authors.forename: M G
authors.initials: MG
authors.lastname: Valdes
authors.forename: M
authors.initials: M
authors.lastname: Wick
authors.forename: S N
authors.initials: SN
authors.lastname: Thibodeau
authors.forename: S
authors.initials: S
authors.lastname: Jalal
mesh_terms: D002872:Chromosome Deletion; D002885:Chromosomes, Human, Pair 16; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D013577:Syndrome; D017085:alpha-Thalassemia / Q000235:genetics*