title: Subtelomeric trisomy 21q: a new benign chromosomal variant.
abstract: The diagnosis of a subtelomeric rearrangement has immediate impact on counseling, particularly in the case of familial rearrangements. However, the existence of subtelomeric imbalances with absent phenotypic effects may hamper genetic counseling, particularly when the rearrangement has not been previously described. We report on a new subtelomeric polymorphism, consisting of a familial subtelomeric rearrangement of chromosome 19 resulting in distal trisomy for 21q, detected in a child with Angelman Syndrome (AS) due to an UBE3A mutation. This report shows that new, previously unknown, benign subtelomeric variants may complicate the correct clinical diagnosis.
authors.affiliation: IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy. clara.bonaglia@bp.lnf.it
authors.forename: Maria Clara
authors.initials: MC
authors.lastname: Bonaglia
authors.forename: Susan
authors.initials: S
authors.lastname: Marelli
authors.forename: Giulietta
authors.initials: G
authors.lastname: Gottardi
authors.forename: Claudio
authors.initials: C
authors.lastname: Zucca
authors.forename: Tiziano
authors.initials: T
authors.lastname: Pramparo
authors.forename: Roberto
authors.initials: R
authors.lastname: Giorda
authors.forename: Rita
authors.initials: R
authors.lastname: Grasso
authors.forename: Renato
authors.initials: R
authors.lastname: Borgatti
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
mesh_terms: D017204:Angelman Syndrome / Q000235:genetics; D002675:Child, Preschool; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D004314:Down Syndrome / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D006801:Humans; D016615:Telomere / Q000235:genetics*; D014178:Translocation, Genetic; D044767:Ubiquitin-Protein Ligases / Q000235:genetics
chemical_list: C471639:UBE3A protein, human; D044767:Ubiquitin-Protein Ligases