title: Paternal duplication of chromosome 5q11.2-5q14 in a male born with craniostenosis, ear tags, kidney dysplasia and several other anomalies.
abstract: A de novo duplication of the proximal part of the long arms of chromosome 5 was found in a male born with craniostenosis, ear tags and kidney dysplasia. The nature of the chromosomal aberration was defined by fluorescence in situ hybridization and the origin of the duplication was traced by polymorphic DNA markers. A comparison is made with the published cases showing similar duplications in the long arm of chromosome 5.
authors.affiliation: Clinical Genetics Center, Utrecht, The Netherlands.
authors.forename: E J
authors.initials: EJ
authors.lastname: Breslau-Siderius
authors.forename: J T
authors.initials: JT
authors.lastname: Wijnen
authors.forename: J G
authors.initials: JG
authors.lastname: Dauwerse
authors.forename: J M
authors.initials: JM
authors.lastname: de Pater
authors.forename: F A
authors.initials: FA
authors.lastname: Beemer
authors.forename: P M
authors.initials: PM
authors.lastname: Khan
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5; D003398:Craniosynostoses / Q000235:genetics*; D004431:Ear, External / Q000002:abnormalities; D005220:Fathers; D005260:Female; D005786:Gene Expression Regulation; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D007668:Kidney / Q000002:abnormalities; D008297:Male; D010375:Pedigree; D014314:Trisomy