title: Intrachromosomal 3p insertion as a cause of reciprocal pure interstitial deletion and duplication in two siblings: further delineation of the emerging proximal 3p deletion syndrome.
abstract: Very few cases of constitutional interstitial deletions of the proximal short arm of chromosome 3 have been reported; however, the proximal 3p deletion is emerging as a clinically recognizable syndrome. We present an intrachromosomal insertion of 3p12.3p14.1 in a phenotypic normal man (46,XY,ins(3)(p25p12.3p14.1)) which is responsible for the unbalanced karyotype in 2 affected offspring, one with a 3p12.3p14.1 interstitial deletion and the other with a reciprocal duplication. The exceptionality of these 2 reciprocal recombinants contributes to a better definition of the proximal 3p deletion syndrome and its duplication counterpart.
authors.affiliation: Genética, Hospital Vall d'Hebron, Barcelona, Spain.
authors.forename: Elisabet
authors.initials: E
authors.lastname: Lloveras
authors.forename: Teresa
authors.initials: T
authors.lastname: Vendrell
authors.forename: Asunción
authors.initials: A
authors.lastname: Fernández
authors.forename: Neus
authors.initials: N
authors.lastname: Castells
authors.forename: Ana
authors.initials: A
authors.lastname: Cueto
authors.forename: Miguel
authors.initials: M
authors.lastname: del Campo
authors.forename: Cristina
authors.initials: C
authors.lastname: Hernando
authors.forename: Olaya
authors.initials: O
authors.lastname: Villa
authors.forename: Alberto
authors.initials: A
authors.lastname: Plaja
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D058674:Chromosome Duplication; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D016254:Mutagenesis, Insertional; D017384:Sequence Deletion; D035781:Siblings