Aneuploidy is a chromosomal aberration or genomic mutation in which there is an abnormal number of chromosomes in a cell. For example:
Autosomal aneuploidy
- Patau’s syndrome – trisomy of chromosome 13.
- Edwards syndrome – trisomy of chromosome 18.
- Down syndrome – trisomy of chromosome 21.
Gonosomal aneuploidy
- Turner syndrome – a condition where an individual has only an X gonosome, gonosomal aneuploidy.
- Klinefelter’s syndrome – gonosomes are complemented by a second X chromosome – XXY.
Chromosomal mosaics
- Mosaic Turner syndrome