title: Screening of subtelomeric rearrangements in autistic disorder: identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation.
abstract: Within the framework of a FISH screening protocol to detect cryptic subtelomeric rearrangements in autistic disorder (AD), a patient bearing three copies of the subtelomeric portion of the q arm of chromosome 13 has been identified. Beside AD, the patient also has severe mental retardation and displays several dysmorphic features. Further FISH analyses revealed that the trisomy was caused by the translocation of a 13q subtelomeric fragment to the acrocentric tip of one chromosome 21 [46,XY.ish der(21) t(13;21) (q34;p13)(D13S1825+)]. Gene dosage experiments carried out with three multiallelic polymorphisms of the subtelomeric region of chromosome 13q showed that the putative length of the triplicate region does not exceed 300 kb about, that is, the distance from telomere to the first normally inherited marker. In addition, gene dosage analysis performed on the derivative chromosome 21, did not reveal loss of the most telomeric protein-encoding genes on 21p. The potential relationship between a postulated increased expression of genes on 13q34 and the complex phenotype in this trisomic patient is discussed.
authors.affiliation: Dipartimento di Biopatologia e Metodologie Biomediche, Università degli Studi di Palermo, Palermo, Italy.
authors.forename: Maria Antonietta
authors.initials: MA
authors.lastname: Di Bella
authors.forename: Francesco
authors.initials: F
authors.lastname: Calì
authors.forename: Gregorio
authors.initials: G
authors.lastname: Seidita
authors.forename: Mario
authors.initials: M
authors.lastname: Mirisola
authors.forename: Angela
authors.initials: A
authors.lastname: Ragusa
authors.forename: Alda
authors.initials: A
authors.lastname: Ragalmuto
authors.forename: Ornella
authors.initials: O
authors.lastname: Galesi
authors.forename: Maurizio
authors.initials: M
authors.lastname: Elia
authors.forename: Donatella
authors.initials: D
authors.lastname: Greco
authors.forename: Marinella
authors.initials: M
authors.lastname: Zingale
authors.forename: Giovanna
authors.initials: G
authors.lastname: Gambino
authors.forename: Rosalba P
authors.initials: RP
authors.lastname: D'Anna
authors.forename: Regina
authors.initials: R
authors.lastname: Regan
authors.forename: Maria Carmela
authors.initials: MC
authors.lastname: Carbone
authors.forename: Alessia
authors.initials: A
authors.lastname: Gallo
authors.forename: Valentino
authors.initials: V
authors.lastname: Romano
mesh_terms: D000293:Adolescent; D000328:Adult; D001321:Autistic Disorder / Q000235:genetics*; D002648:Child; D002882:Chromosomes, Human, Pair 13; D005260:Female; D018628:Gene Dosage; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D016133:Polymerase Chain Reaction; D016615:Telomere; D014178:Translocation, Genetic; D014314:Trisomy