title: A new case of partial 2p trisomy due to de novo interstitial duplication 2p21-22.
abstract: We report on a case of "de novo" interstitial duplication of bands 2p21-22 in a 31-month-old female with mild mental retardation and dysmorphism. Cytogenetic investigations were performed on peripheral blood by adding 5-BrdU and 5-FdU. Measurements of enzymatic activity of malate dehydrogenase, whose gene has been mapped on the band 2p23, added reliability to the identification of bands 2p21-22 as the duplicated segment. The authors suggest that the duplication of this segment is able to cause the clinical picture of the syndrome of partial 2p trisomy.
authors.affiliation: University of Chieti, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Parruti
authors.forename: C
authors.initials: C
authors.lastname: Di Ilio
authors.forename: G
authors.initials: G
authors.lastname: Calabrese
authors.forename: L
authors.initials: L
authors.lastname: Stuppia
authors.forename: P
authors.initials: P
authors.lastname: Guanciali Franchi
authors.forename: A
authors.initials: A
authors.lastname: Aceto
authors.forename: G
authors.initials: G
authors.lastname: Palka
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002871:Chromosome Banding; D002889:Chromosomes, Human, Pair 2; D004423:Ear / Q000002:abnormalities; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D014314:Trisomy