Aplastic Anemia in Two Patients with Sex Chromosome Aneuploidies

Eric T. Rush, G. Bradley Schaefer, Warren G. Sanger, Peter F. Coccia

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)31-34
Number of pages4
JournalCytogenetic and Genome Research
Volume147
Issue number1
DOIs
StatePublished - Dec 1 2015

Fingerprint

Sex Chromosomes
Aplastic Anemia
Aneuploidy
Sex Chromosome Aberrations
Chromosome Aberrations
Phenotype
Incidence
Tetrasomy X
Therapeutics

Keywords

  • Aplastic anemia
  • Sex chromosome aneuploidy
  • Tetrasomy X
  • Trisomy X

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Cite this

Rush, E. T., Schaefer, G. B., Sanger, W. G., & Coccia, P. F. (2015). Aplastic Anemia in Two Patients with Sex Chromosome Aneuploidies. Cytogenetic and Genome Research, 147(1), 31-34. https://doi.org/10.1159/000441585

Aplastic Anemia in Two Patients with Sex Chromosome Aneuploidies. / Rush, Eric T.; Schaefer, G. Bradley; Sanger, Warren G.; Coccia, Peter F.

In: Cytogenetic and Genome Research, Vol. 147, No. 1, 01.12.2015, p. 31-34.

Research output: Contribution to journalArticle

Rush, ET, Schaefer, GB, Sanger, WG & Coccia, PF 2015, 'Aplastic Anemia in Two Patients with Sex Chromosome Aneuploidies', Cytogenetic and Genome Research, vol. 147, no. 1, pp. 31-34. https://doi.org/10.1159/000441585
Rush, Eric T. ; Schaefer, G. Bradley ; Sanger, Warren G. ; Coccia, Peter F. / Aplastic Anemia in Two Patients with Sex Chromosome Aneuploidies. In: Cytogenetic and Genome Research. 2015 ; Vol. 147, No. 1. pp. 31-34.
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