title: Complex phenotype associated with 17q21.31 microdeletion.
abstract: We report on a patient carrying a 17q21.31 microdeletion and exhibiting many common syndrome features, together with other clinical signs which have rarely or never been described to date. The detected 695-kb 17q21.31 deletion is larger than in most previously reported cases but is still probably the result of recombination between flanking low-copy repeats. Due to the complexity of the patient's clinical condition, together with the presence of 3 previously unreported symptoms, namely chronic anemia, cervical vertebrae arthrosis and vertebrae fusion, this case is an important addition to the existing knowledge about the 17q21.31 microdeletion syndrome.
authors.affiliation: Departamento de Genética e Morfologia, Instituto de Ciências Biológicas, Brazil.
authors.forename: H
authors.initials: H
authors.lastname: Dornelles-Wawruk
authors.forename: A
authors.initials: A
authors.lastname: Pic-Taylor
authors.forename: C
authors.initials: C
authors.lastname: Rosenberg
authors.forename: A C V
authors.initials: AC
authors.lastname: Krepischi
authors.forename: H P N
authors.initials: HP
authors.lastname: Safatle
authors.forename: I
authors.initials: I
authors.lastname: Ferrari
authors.forename: J F
authors.initials: JF
authors.lastname: Mazzeu
keywords: 17q21.31 microdeletion syndrome; Array-CGH; Cervical arthrosis; Chronic anemia; Intellectual disability; Vertebrae fusion