title: A de novo 8q22.2-24.3 duplication in a patient with mild phenotype.
abstract: We report a new case of 8q interstitial duplication in a patient with dysmorphic features, umbilical hernia, cryptorchidism, short stature, congenital heart defect and mild mental retardation (MR). Chromosome analysis with high resolution QFQ bands showed 46,XY, 8q+, which was interpreted as a partial duplication of the distal long arm of chromosome 8 (q22 → qter). This chromosomal aberration was further characterized using fluorescence in situ hybridization (FISH) analyses with multiple DNA probes and array-CGH (Comparative Genomic Hybridization) experiment which demonstrated a de novo direct duplication (8)(q22.2-q24.3). We have compared this case with other partially trisomic 8q patients reported in literature and highlighted the common clinical features in 8q22-8q24 duplication syndrome.
authors.affiliation: Department of Pediatrics, University Magna Graecia, Catanzaro, Italy. dconcolino@unicz.it
authors.forename: D
authors.initials: D
authors.lastname: Concolino
authors.forename: M A
authors.initials: MA
authors.lastname: Iembo
authors.forename: M T
authors.initials: MT
authors.lastname: Moricca
authors.forename: M
authors.initials: M
authors.lastname: Rapsomaniki
authors.forename: R
authors.initials: R
authors.lastname: Marotta
authors.forename: O
authors.initials: O
authors.lastname: Galesi
authors.forename: M
authors.initials: M
authors.lastname: Fichera
authors.forename: C
authors.initials: C
authors.lastname: Romano
authors.forename: P
authors.initials: P
authors.lastname: Strisciuglio
mesh_terms: D059786:Abnormal Karyotype; D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D058674:Chromosome Duplication; D020223:Chromosome Painting; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D015342:DNA Probes; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D014314:Trisomy / Q000235:genetics*
chemical_list: D015342:DNA Probes