title: Terminal deletion of the long arm of chromosome 10: case report and review of the literature.
abstract: We report on a newborn girl with a terminal deletion of the long arm of chromosome 10: del (10)(pter----q26). The phenotypic manifestations are compatible with those of the previously reported cases. In addition, the association with abnormalities of the urinary tract is reported for the first time. A clinical and neurodevelopmental follow-up is described up to age 18 months.
authors.affiliation: Divisione Pediatrica, Presidio Ospedaliero, Conegliano, Treviso, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Gorinati
authors.forename: G
authors.initials: G
authors.lastname: Zamboni
authors.forename: N
authors.initials: N
authors.lastname: Padoin
authors.forename: A
authors.initials: A
authors.lastname: Dodero
authors.forename: D
authors.initials: D
authors.lastname: Caufin
authors.forename: L
authors.initials: L
authors.lastname: Memo
mesh_terms: D002869:Chromosome Aberrations / Q000175:diagnosis*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002879:Chromosomes, Human, Pair 10; D005149:Facial Expression; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D014551:Urinary Tract / Q000002:abnormalities