Karyotypes

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5 Terms

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Down Syndrome

  • Trisomy 21

  • Chromosomal abnormality

  • In which an individual has 3 copies of chromosome number 21

  • The extra chromosomes means that the excess genetic information & an unpaired chromosome in every cell

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Edwards Syndrome 

  • Trisomy 18

  • Approx: 1:6000 live births

  • Many organ system defects

  • Low survival rate & most fetuses die before birth

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Patau Syndrome

  • Trisomy 13

  • Approx 1:25,000 births

  • Three copies of chromosomes found in chromosome 13

  • Severe developmental issues and kidney and heart defects

  • Very low survival rate

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Klinefelter's Syndrome 

  • XXY

  • Two X and one Y sex chromosome 

  • Approx : 1:500 male births 

  • Males usually sterile and exhibits some feminine characteristic

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Turner syndrome

  • Monosomy X

  • Only 1 X chromosome found in the 23 chromosome

  • 1:2500 female births

  • Female appearance may mature however they may not receive their menstrual cycle and are sterile (cannot reproduce)Â