title: Simultaneous trisomy 9q3 and monosomy 5p in two children with der(5),t(5;9)(p15.1;q34.13): report of an extended family.
abstract: We present a family segregating for t(5;9)(p15.1;q34.13). Two cases with der(5),t(5;9), resulting in a partial duplication 9q34.13----qter and partial deletion of 5p15.12----pter, were ascertained. The phenotypes were consistent with features of both the cri du chat and trisomy 9q3 syndromes.
authors.affiliation: Clinical Genetics Department, Irrabeena and Princess Margaret Hospital, Perth, West Australia.
authors.forename: D
authors.initials: D
authors.lastname: Wellesley
authors.forename: I D
authors.initials: ID
authors.lastname: Young
authors.forename: P
authors.initials: P
authors.lastname: Cooke
authors.forename: D F
authors.initials: DF
authors.lastname: Callen
authors.forename: A
authors.initials: A
authors.lastname: Hockey
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009006:Monosomy; D010375:Pedigree; D014314:Trisomy