title: Familial dup(5)(q15q21) associated with normal and abnormal phenotypes.
abstract: We studied a familial dup(5q) present in a phenotypically normal father and his monozygotic twin daughters with different abnormal phenotypes. High-resolution chromosome analysis suggested that the duplicated segment was of region q15-21, which seems to be the smallest dup(5q) reported thus far. This dup(5q) was confirmed by fluorescence in situ hybridization with a chromosome 5 painting library and 5q cosmid clones. The presence of the dup(5q) in a normal father suggested that the duplication itself may be harmless. The anomalies in the twins may be due to processes other than this chromosome change.
authors.affiliation: Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520-8005, USA.
authors.forename: S Y
authors.initials: SY
authors.lastname: Li
authors.forename: L H
authors.initials: LH
authors.lastname: Gibson
authors.forename: K
authors.initials: K
authors.lastname: Gomez
authors.forename: B R
authors.initials: BR
authors.lastname: Pober
authors.forename: T L
authors.initials: TL
authors.lastname: Yang-Feng
mesh_terms: D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D014314:Trisomy / Q000235:genetics; D014430:Twins, Monozygotic