title: Aplastic Anemia in Two Patients with Sex Chromosome Aneuploidies.
abstract: Sex chromosome aneuploidies range in incidence from rather common to exceedingly rare and have a variable phenotype. We report 2 patients with sex chromosome aneuploidies who developed severe aplastic anemia requiring treatment. The first patient had tetrasomy X (48,XXXX) and presented at 9 years of age, and the second patient had trisomy X (47,XXX) and presented at 5 years of age. Although aplastic anemia has been associated with other chromosomal abnormalities, sex chromosome abnormalities have not been traditionally considered a risk factor for this condition. A review of the literature reveals that at least one other patient with a sex chromosome aneuploidy (45,X) has suffered from aplastic anemia and that other autosomal chromosomal anomalies have been described. Despite the uncommon nature of each condition, it is possible that the apparent association is coincidental. A better understanding of the genetic causes of aplastic anemia remains important.
authors.affiliation: Department of Pediatrics, University of Nebraska Medical Center, Omaha, Nebr., USA.
authors.forename: Eric T
authors.initials: ET
authors.lastname: Rush
authors.forename: G Bradley
authors.initials: GB
authors.lastname: Schaefer
authors.forename: Warren G
authors.initials: WG
authors.lastname: Sanger
authors.forename: Peter F
authors.initials: PF
authors.lastname: Coccia
mesh_terms: D000293:Adolescent; D000741:Anemia, Aplastic / Q000235:genetics* / Q000276:immunology / Q000473:pathology / Q000628:therapy; D016026:Bone Marrow Transplantation; D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000276:immunology / Q000473:pathology / Q000628:therapy; D005260:Female; D006085:Graft Survival; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000276:immunology / Q000473:pathology / Q000628:therapy; D007621:Karyotyping; D009894:Opportunistic Infections / Q000235:genetics* / Q000276:immunology / Q000473:pathology / Q000628:therapy; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development / Q000235:genetics* / Q000473:pathology; D016896:Treatment Outcome; D014314:Trisomy / Q000235:genetics* / Q000473:pathology