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Aplastic Anemia in Two Patients with Sex Chromosome Aneuploidies
- Source :
- Cytogenetic and Genome Research. 147:31-34
- Publication Year :
- 2015
- Publisher :
- S. Karger AG, 2015.
-
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.
- Subjects :
- Pediatrics
medicine.medical_specialty
Adolescent
Anemia
Sex Chromosome Disorders of Sex Development
Trisomy
Opportunistic Infections
Biology
Craniofacial Abnormalities
Intellectual Disability
Genetics
medicine
Humans
Risk factor
Aplastic anemia
Molecular Biology
Sex Chromosome Aberrations
Genetics (clinical)
Bone Marrow Transplantation
Chromosomes, Human, X
Incidence (epidemiology)
Graft Survival
Anemia, Aplastic
Chromosome
Karyotype
medicine.disease
Treatment Outcome
Child, Preschool
Karyotyping
Tetrasomy
Immunology
Female
Subjects
Details
- ISSN :
- 1424859X and 14248581
- Volume :
- 147
- Database :
- OpenAIRE
- Journal :
- Cytogenetic and Genome Research
- Accession number :
- edsair.doi.dedup.....082d528fc51b5b23375c3c68a6f8e1e6