title: Partial duplication of the long arm of chromosome 15: confirmation of a causative role in craniosynostosis and definition of a 15q25-qter trisomy syndrome.
abstract: A syndrome of mental retardation and multiple congenital anomalies, including craniosynostosis and overgrowth, was observed in two related individuals from a large kindred. Both of them carried a 15q25.1-qter trisomy associated with a subtle 13qter monosomy resulting from unbalanced segregation of a familial t(13;15)(q34;q25.1) translocation. Reportedly, a further individual in this kindred has the same condition. The present report confirms previous claims that gene(s) in the distal 15q region play a role in suture formation. At the same time it adds new data to the delineation of a 15q25-qter trisomy syndrome.
authors.affiliation: Istituto di Genetica Medica, Facoltà di Medicina "A. Gemelli," Università Cattolica del Sacro Cuore, Rome, Italy. mzollino@rm.unicatt.it
authors.forename: M
authors.initials: M
authors.lastname: Zollino
authors.forename: F
authors.initials: F
authors.lastname: Tiziano
authors.forename: C
authors.initials: C
authors.lastname: Di Stefano
authors.forename: G
authors.initials: G
authors.lastname: Neri
mesh_terms: D000293:Adolescent; D000328:Adult; D002871:Chromosome Banding; D002882:Chromosomes, Human, Pair 13; D002884:Chromosomes, Human, Pair 15; D003398:Craniosynostoses / Q000235:genetics*; D003878:Dermatoglyphics; D002658:Developmental Disabilities / Q000235:genetics; D019066:Facies; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014178:Translocation, Genetic; D014314:Trisomy