title: Partial trisomy 4q and monosomy 9p resulting from a familial translocation t(4;9)(q27;p24) in a child with choanal atresia.
abstract: A male infant with a deletion of 9p and concomitant duplication of 4q: 46,XY, der(9)t(4;9)(q27;p24), is described. Parental chromosome analysis showed a balanced maternal translocation. To our knowledge, the above cytogenetic and clinical abnormalities have not been described previously. A phenotype comparison is presented with previously reported cases concerning a deletion of 9p and a duplication of 4q.
authors.affiliation: Department of Clinical Genetics, University Hospital Dijkzigt, Eramus University, Rotterdam, The Netherlands.
authors.forename: C H
authors.initials: CH
authors.lastname: Wouters
authors.forename: T M
authors.initials: TM
authors.lastname: van Bodegom
authors.forename: H A
authors.initials: HA
authors.lastname: Moll
authors.forename: L C
authors.initials: LC
authors.lastname: Govaerts
mesh_terms: D002754:Choanal Atresia / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4; D002899:Chromosomes, Human, Pair 9; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009006:Monosomy; D010375:Pedigree; D014178:Translocation, Genetic; D014314:Trisomy