title: Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterization.
abstract: The pericentromeric region on 16p appears to be susceptible to chromosomal rearrangements and several patients with rearrangements in this region have been described. We report on a further patient with a microdeletion 16p11.2-p12.2 in the context of described patients with a deletion in the pericentromeric region of 16p. Minor facial anomalies, feeding difficulties, significant delay in speech development, and recurrent ear infections are common symptoms of the microdeletion syndrome 16p11.2-p12.2. All reported patients so far share a common distal breakpoint at 16p12.2 but vary in the proximal breakpoint at 16p11.2. The microdeletion 16p11.2-p12.2 should be distinguished from the approximately 500 kb microdeletion in 16p11.2 which seems to be associated with autism but not with facial manifestations, feeding difficulties, or developmental delay.
authors.affiliation: Institute of Human Genetics, Technische Universität München, Munich, Germany.
authors.forename: Maja
authors.initials: M
authors.lastname: Hempel
authors.forename: Nuria
authors.initials: N
authors.lastname: Rivera Brugués
authors.forename: Janine
authors.initials: J
authors.lastname: Wagenstaller
authors.forename: Gaby
authors.initials: G
authors.lastname: Lederer
authors.forename: Andrea
authors.initials: A
authors.lastname: Weitensteiner
authors.forename: Heide
authors.initials: H
authors.lastname: Seidel
authors.forename: Thomas
authors.initials: T
authors.lastname: Meitinger
authors.forename: Tim M
authors.initials: TM
authors.lastname: Strom
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002872:Chromosome Deletion; D002885:Chromosomes, Human, Pair 16; D005500:Follow-Up Studies; D006801:Humans; D007805:Language Development Disorders / Q000235:genetics*; D008297:Male; D010031:Otitis / Q000150:complications / Q000235:genetics*; D013577:Syndrome