karyotype picture of the chromosomes in a cell used to check for abnormalities Prenatal diagnosis: Trisomy 21 (Down’s syndrome)

Preparing a karyotype harvest cells Postnatal diagnostic karyotype tumor biopsy skin cells from mouth (ie. for non-cancer related diagnoses) Prenatal diagnostic karyotype chorionic villi sampling (CVS) amniocentesis

Who is offered amniocentesis or CVS? maternal age (women 35 or older) Risk of Down’s syndrome: mother in 20s 1/1250 99.92% OK mother at 35 1/400 99.75% OK mother at 40 1/100 99% OK

Prenatal diagnosis: amniocentesis sampling cells from amniotic fluid usually done ~ 15-18 weeks

DiGeorge syndrome/CATCH22 microdeletion on chromosome 22 birth defect that affects the immune system absence of or underdevelopment of the thymus and parathyroid glands facial features include low-set ears, wide-set eyes, small jaw, and bowing up of upper lip

Engage Genetic Disorders Patau Syndrome Edward Syndrome Klinfelter’s Syndrome Turner Syndrome Super Male Syndrome Super Female Syndrome

47, XX or XY, +13 serious eye, brain, circulatory defects as well as cleft palate. 1:5000 live births. Children rarely live more than a few months. Patau Syndrome

Edward Syndrome almost every organ system affected 1:10,000 live births. Children with full Trisomy 18 generally do not live more than a few months.

Turner Syndrome

Turner Syndrom

Kleinfelter Disease

Kleinfelter

Super Male and Super Female - Has an XXX - Fertile females with normal intelligence Has an XYY - Tall male with heavy acne - Some tendency to mental retardation Aggressive tendency