title: Three-Year Follow-Up of a Prenatally Ascertained Apparently Non-Mosaic sSMC(10): Delineation of a Non-Critical Region.
abstract: Small supernumerary marker chromosomes (sSMC) originating from chromosome 10 are rare and usually found in mosaic form. We present a de novo apparently non-mosaic sSMC(10) prenatally diagnosed in amniotic fluid and postnatally confirmed in peripheral blood. Characterization by array-CGH showed a pericentromeric duplication of 7.1 Mb of chromosome 10. The fetus did not show ultrasound abnormalities, and a normal female phenotype was observed during a 3-year postnatal follow-up. The absence of phenotypic abnormalities in the present case provides evidence of a non-critical pericentromeric region in 10p11.21q11.1 (hg19 35,355,570-42,448,569) associated with a duplication.
authors.affiliation: Departament de Citogenx00E8;tica, LABCO Diagnostics Iberia, Esplugues de Llobregat, Spain.
authors.forename: Laura
authors.initials: L
authors.lastname: Barranco
authors.forename: Marta
authors.initials: M
authors.lastname: Costa
authors.forename: Elisabet
authors.initials: E
authors.lastname: Lloveras
authors.forename: Elena
authors.initials: E
authors.lastname: Ordóñez
authors.forename: Nerea
authors.initials: N
authors.lastname: Maiz
authors.forename: Cristina
authors.initials: C
authors.lastname: Hernando
authors.forename: Olaya
authors.initials: O
authors.lastname: Villa
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Cirigliano
authors.forename: Alberto
authors.initials: A
authors.lastname: Plaja
mesh_terms: D000328:Adult; D002675:Child, Preschool; D058674:Chromosome Duplication; D002879:Chromosomes, Human, Pair 10; D055028:Comparative Genomic Hybridization; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D011296:Prenatal Diagnosis