Beware of mosaicism - not every tissue may express the defect, e.g in Trisomy 21, not every tissue will express the extra chromosome

Mitochondrial diseases

Paediatric genetic conditions

Cystic Fibrosis

Downs syndrome - Trisomy 21

Edward's syndrome - Trisomy 18

Patau's Syndrome - Trisomy 13

William Syndrome - 7

Prader-Willi syndrome - 15

Fragile-X syndrome

Muscular dystrophy

Pierre Robin syndrome

DiGeorge syndrome

X-linked disorders

Turners Syndrome - 45 X0

Klinefelter's syndrome - 47, XXY

Fabry disease