title: [Sex chromosome abnormality: report of three clinical cases of X pentasomy].
abstract: Pentasomy X cases are very few. In this study we describe three clinical cases (two newborn children and a girl in puberal age) of females showing a 49, XXXXX cariotype. The salient phenotypic characteristics of these cases (heart defects, growth deficiency, craniofacial and hand abnormalities) are compared to the clinico-pathological data described in literature.
authors.affiliation: Struttura Complessa Anatomia ed Istologia Patologica, Ospedale S. Andrea, ASL 11, Vercelli, Italia.
authors.forename: E
authors.initials: E
authors.lastname: Biroli
authors.forename: C
authors.initials: C
authors.lastname: Ghimenti
authors.forename: I
authors.initials: I
authors.lastname: Ricci
authors.forename: B
authors.initials: B
authors.lastname: Pirola
authors.forename: M E
authors.initials: ME
authors.lastname: Liverani
authors.forename: A
authors.initials: A
authors.lastname: Perona
authors.forename: L
authors.initials: L
authors.lastname: Galligani
authors.forename: A
authors.initials: A
authors.lastname: Guala
authors.forename: G
authors.initials: G
authors.lastname: Angeli
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D000782:Aneuploidy; D041321:Chromosomes, Human, X; D019465:Craniofacial Abnormalities / Q000235:genetics; D004392:Dwarfism / Q000235:genetics; D005260:Female; D006228:Hand Deformities, Congenital / Q000235:genetics; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D025064:Sex Chromosome Disorders / Q000235:genetics* / Q000473:pathology