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Karyotypes. What is a karyotype?. A karyotype is an analysis of your chromosomes for any abnormalities. . Karyotype Information. Human somatic cells have 46 chromosomes. The sex chromosomes are X and Y. XX-female XY-male. Sex Chromosomes. Abnormalities.
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What is a karyotype? • A karyotype is an analysis of your chromosomes for any abnormalities.
Karyotype Information • Human somatic cells have 46 chromosomes. • The sex chromosomes are X and Y. • XX-female • XY-male
Abnormalities • When cells have more or less than 46 chromosomes the person has a genetic disorder.
Abnormalities • If someone is missing a piece of their chromosome, they can also have a genetic disorder.
What do we call abnormalities? • Monosomy- only 1 chromosome, not 2 • Trisomy- there are 3 chromosomes, not 2
Turners Syndrome • 96-98% do not survive to birth • No menstruation • No breast development • No hips • Broad shoulders and neck
Cri-Du-Chat Syndrome • Moon-shaped face • Heart disease • Mentally retarded • Malformed larynx • Normal lifespan
Eighteen Q Deletion Syndrome • Mentally retarded • Heart disease • Abnormal hands and feet • Large eyes • Large ears • Normal lifespan
Down Syndrome • Short, broad hands • Stubby fingers • Rough skin • Impotency in males • Mentally retarded • Small round face • Protruding tongue • Short lifespan