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Nondisjunction

Failure of a pair of homologous chromosomes to separate at meiosis 1, meiosis 2 or mitosis

Turner syndrome is classified by...

Only 1 pair of X chromosome in females

Down's Syndrome classified by

Trisomy 21 (3 copies of chromosome 21)

Clinical indications for chromosomal analysis

-multiple congenital abnormalities


-infertility


-recurrent miscarriage/unexplained stillbirth


-malignancy (e.g. retinoblastoma caused by deletions in region on chromosome 13)


- learning difficulties