Chromosomes and Inheritance edu/courses/biol1010- podgorski/PPpage.htm A normal human male karyotype.

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Presentation transcript:

Chromosomes and Inheritance edu/courses/biol1010- podgorski/PPpage.htm A normal human male karyotype.

Changes in Chromosome Number and Structure Changes in chromosome number and structure are important for health and evolution. Down syndrome is caused by a change in chromosome number.

Aneuploidy occurs when one of the chromosomes is present in an abnormal number of copies. Aneuploidy Trisomy and monosomy are two forms of aneuploidy.

Aneuploidy occurs when one of the chromosomes present in an abnormal number of copies. Trisomy and monosomy are two forms of aneuploidy. Down Syndrome Symptoms: –Intellectual disability –Facial appearance –Poor muscle tone –Heart defect –Digestive tract defect –Vision and hearing problems

Down Syndrome is Caused by Trisomy for Chromosome 21 Aneuploidy is remarkably common, causing termination of at least 25% of human conceptions. Aneuploidy is also a driving force in cancer progression (virtually all cancer cells are aneuploid).

Chromosome Non-Disjunction in Meiosis Causes Aneuploidy

The Frequency of Chromosome Non-Disjunction And Down Syndrome Rises Sharply with Maternal Age The phenomenon is clear – the explanation isn’t.

Sex Chromosome Aneuploid Conditions are Common Klinefelter syndrome

There are 4 types of chromosome structural change – all of them associated with human disorders Chromosome Structural Changes

A Boy with Cri-du-Chat Syndrome – a Debilitating Disorder Caused by Chromosome Deletion

Cri-du-Chat is Caused by the Loss of the Short Arm of One Copy of Chromosome 5

Cri du chat Larynx is improperly developed so make sound like cat's cry Severe mental retardation (IQ below 20)‏ Facial deformity Heart disease Most die in early childhood