title: [15Q11.2 (BP1-BP2) microdeletion, a new syndrome with variable expressivity].
abstract: The case of a boy with psychomotor retardation and dysmorphic features is presented. He has a 1.5 Mb 15q11.2 microdeletion of paternal origin diagnosed by aCGH. The deletion is located between breakpoints BP1 and BP2 of the Prader-Willi/Angelman syndromes critical region. Clinical features in our patient fit well with those described in ten cases of pure BP1-BP2 deletion published to date.
authors.affiliation: Neuropediatría, Hospital General Universitario, Alicante, España.
authors.forename: A
authors.initials: A
authors.lastname: Sempere Pérez
authors.forename: I
authors.initials: I
authors.lastname: Manchón Trives
authors.forename: I
authors.initials: I
authors.lastname: Palazón Azorín
authors.forename: L
authors.initials: L
authors.lastname: Alcaraz Más
authors.forename: E
authors.initials: E
authors.lastname: Pérez Lledó
authors.forename: F
authors.initials: F
authors.lastname: Galán Sánchez
mesh_terms: D002675:Child, Preschool; D002869:Chromosome Aberrations; D002884:Chromosomes, Human, Pair 15; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D011596:Psychomotor Disorders / Q000235:genetics*; D013577:Syndrome