title: Four cases of trisomy 9p syndrome with particular chromosome rearrangements.
abstract: The authors present four children, two males and two females, with a 9p duplication, derived from various chromosome rearrangements, diagnosed using clinical, cytogenetic and biochemical evaluations. In particular, GALT dosage allowed them to define with accuracy the different chromosome break-points.
authors.affiliation: Dipartimento di Pediatria, Universitá degli Studi di Firenze, Italia.
authors.forename: C
authors.initials: C
authors.lastname: Bussani Mastellone
authors.forename: M L
authors.initials: ML
authors.lastname: Giovannucci Uzielli
authors.forename: S
authors.initials: S
authors.lastname: Guarducci
authors.forename: G
authors.initials: G
authors.lastname: Nathan
mesh_terms: D002899:Chromosomes, Human, Pair 9; D005260:Female; D015321:Gene Rearrangement / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D013577:Syndrome; D014314:Trisomy