title: Mild phenotype associated with inv dup 8 (q21.2-q22.3) of maternal origin.
abstract: We report on a girl with a de novo inverted duplication of chromosome 8 (q21.2-q22.3) associated with a mild phenotype. We were able to establish the maternal origin of the rearranged chromosome. We discuss the correlation between genotype and phenotype on the basis of a review of the findings from individuals with partial dup(8q).
authors.affiliation: Biologia Generale e Genetica Medica, Università di Pavia, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Tupler
authors.forename: E
authors.initials: E
authors.lastname: Pagliano
authors.forename: L
authors.initials: L
authors.lastname: Barbierato
authors.forename: G
authors.initials: G
authors.lastname: Lanzi
authors.forename: P
authors.initials: P
authors.lastname: Maraschio
authors.forename: E
authors.initials: E
authors.lastname: Fazzi
mesh_terms: D000328:Adult; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002898:Chromosomes, Human, Pair 8; D018900:Dinucleotide Repeats; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D009132:Muscles / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000503:physiopathology; D010641:Phenotype; D011596:Psychomotor Disorders / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid; D014463:Ultrasonography