title: 1q44-qter trisomy: clinical report and review of the literature.
abstract: Subtelomeric rearrangements are one of the main causes of multiple congenital anomalies and mental retardation, and they are detected in 5% of patients. We report on a 6.5-year-old boy with mental retardation, dysmorphic features, and behavioral problems, who revealed 1q44-qter trisomy and 22q13.3-qter monosomy due to a maternal cryptic translocation t(1;22). We compared the clinical and cytogenetic data of our patient with those of another case presenting a pure 22qter monosomy and with those of all 1qter trisomy cases reported in the international literature. To the best of our knowledge, the subterminal 1q trisomy found in the present case has been reported in only 12 patients to date (including five familial cases). This report aims to contribute to our understanding of 1q44-qter trisomy.
authors.affiliation: Molecular Cytogenetic Laboratory, Pediatrics Department, University of Padua, Padova, Italy. lenzini@pediatria.unipd.it
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Lenzini
authors.forename: Lucia
authors.initials: L
authors.lastname: Ballarati
authors.forename: Paola
authors.initials: P
authors.lastname: Drigo
authors.forename: Marco
authors.initials: M
authors.lastname: Carrozzi
authors.forename: Daniela
authors.initials: D
authors.lastname: Gambel-Benussi
authors.forename: Daniela
authors.initials: D
authors.lastname: Giardino
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Petix
authors.forename: Melissa Rosa
authors.initials: MR
authors.lastname: Rizzotto
authors.forename: Vanna
authors.initials: V
authors.lastname: Pecile
mesh_terms: D000293:Adolescent; D000782:Aneuploidy; D002648:Child; D022202:Chromosomes, Artificial, Bacterial / Q000235:genetics; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D009006:Monosomy; D014178:Translocation, Genetic; D014314:Trisomy