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Prenatal diagnosis: Trisomy 21 (Down’s syndrome)
karyotype• picture of the chromosomes in a cell used to check for abnormalities
Preparing a karyotype
• harvest cells
Postnatal diagnostic karyotype tumor biopsy skin cells from mouth (ie. for non-cancer related diagnoses)
Prenatal diagnostic karyotypechorionic 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% OKmother at 35 1/400 99.75% OKmother 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
EngageGenetic 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 XYYHas an XYY- Tall male with heavy acne- Tall male with heavy acne- Some tendency to mental - Some tendency to mental retardationretardationAggressive tendencyAggressive tendency