What is a chromosome disorder?
Chromosome disorders involve missing, extra or rearranged chromosome material, rather than a change in a single gene.
Humans normally have 46 chromosomes arranged in 23 pairs. A chromosome disorder occurs when there is an extra chromosome, a missing chromosome, or a segment that has been deleted, duplicated or rearranged.
Main categories
- Numerical: an extra or missing whole chromosome, such as trisomy 21
- Structural: deletions, duplications, translocations and inversions
- Microdeletion and microduplication syndromes, detectable only on microarray
- Mosaicism: two or more cell lines with different chromosome patterns
How they are detected
Karyotype detects large changes. Chromosomal microarray detects much smaller gains and losses and is the preferred first-line test when a fetal anomaly is seen on ultrasound.
This page is general information and is not a substitute for a consultation. Every pregnancy is assessed individually.
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