title: Partial tetrasomy 9 in an infant with clinical and radiological evidence of multiple joint dislocations.
abstract: We report on an infant with partial tetrasomy of chromosome 9 due to the presence in her peripheral lymphocytes and in 55% of skin fibroblasts of an isochromosome 9 comprised of the p arm and of a portion of the q arm extending to band q21.1. The phenotype is comparable to that of other cases with a similar chromosome aberration, with multiple joint dislocations as a prominent manifestation.
authors.affiliation: Centro per le Embriofetopatie, Ospedale S. Giovanni, Roma, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Calvieri
authors.forename: C
authors.initials: C
authors.lastname: Tozzi
authors.forename: C
authors.initials: C
authors.lastname: Benincori
authors.forename: M V
authors.initials: MV
authors.lastname: De Merulis
authors.forename: A
authors.initials: A
authors.lastname: Bellussi
authors.forename: M
authors.initials: M
authors.lastname: Genuardi
authors.forename: G
authors.initials: G
authors.lastname: Neri
mesh_terms: D001176:Arthrogryposis / Q000000981:diagnostic imaging / Q000235:genetics*; D002869:Chromosome Aberrations; D002899:Chromosomes, Human, Pair 9; D003878:Dermatoglyphics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D010641:Phenotype; D011859:Radiography