title: Partial duplication of 17 long arm.
abstract: Three subjects from 2 unrelated families with partial duplication of 17q, derived from a reciprocal parental translocation between chromosomes 11 and 17 with different breakpoints, are described. A female patient from one family with a 46,XX,-11,+der(11),t(11;17)(q24;q23.2)pat chromosome complement had died at 2 months of age. In the second family, a male propositus and a subsequent fetus, identified by cytogenetic prenatal diagnosis, showed a 46,XY,-11,+der(11),t(11;17)(q2505,q24.3) mat chromosome complement. Twelve other cases involving partial duplication of chromosome 17 have been reported, 11 of these derived from a balanced translocation, and 1 was a duplication. All these cases showed psychomotor and mental retardation, cranial contour anomalies, micrognathia, bulbous nose, short neck, skeletal anomalies, and CNS defects. The phenotypic and clinical observations in the three subjects of this report are compared with previously reported findings.
authors.affiliation: Dipartimento di Pediatria, Università di Padova, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Lenzini
authors.forename: A
authors.initials: A
authors.lastname: Leszl
authors.forename: L
authors.initials: L
authors.lastname: Artifoni
authors.forename: R
authors.initials: R
authors.lastname: Casellato
authors.forename: R
authors.initials: R
authors.lastname: Tenconi
authors.forename: C
authors.initials: C
authors.lastname: Baccichetti
mesh_terms: D000328:Adult; D002478:Cells, Cultured; D002871:Chromosome Banding; D002880:Chromosomes, Human, Pair 11; D002886:Chromosomes, Human, Pair 17; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008214:Lymphocytes / Q000166:cytology; D008297:Male; D014178:Translocation, Genetic; D014314:Trisomy