Karyotyping.

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Presentation transcript:

Karyotyping

The analysis involves comparing: chromosomes for their length the placement of centromeres (areas where the two chromatids are joined) the location and sizes of G-bands. (Stain/Dye)

The dye stains regions of chromosomes that are rich in the base pairs Adenine (A) and Thymine (T) producing a dark band

Normal # of chromosomes Patient problems are due to something other than an abnormal number of chromosomes. Klinefelter's Syndrome: one or more extra sex chromosomes (i.e., XXY) Down's Syndrome: Trisomy 21, extra chromosome 21 Trisomy 13 Syndrome extra chromosome 13

Klinefelter Syndrome Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development. Its signs and symptoms vary among affected individuals. Affected individuals typically have small testes that do not produce as much testosterone as usual. (Generally Sterile)

Down Syndrome Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia)

Trisomy 13 Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body.