Suspicion of a chromosome abnormality is typically raised due to the presence of developmental delays or congenital malformations. Diagnosis of<unk>  is typically made via a routine chromosome analysis from a blood sample. The diagnosis can also be made prenatally by chorionic villus sampling or amniocentesis. Severity of<unk>  is variable. Individuals with mosaicism are typically less severely affected than non-mosaic individuals.
Tetrasomy 18p
Tetrasomy 9p
Monosomy 9p
Distal trisomy 10q
2q37 monosomy
Partial monosomy 13q
Small supernumerary marker chromosome
Chromosome 2q deletion