karyotype curiosities

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Karyotype Curiosities. Visual Aids. Fertilization. MITOSIS. egg n=23 haploid. Sperm n=23 haploid. Zygote n=46 diploid. Stem Cells Diploid=2n. 2n. 2n. 2n. 2n. 2n. 2n. 2n. 2n. 2n. 2n. The fusion of a sperm and egg to form a zygote. - PowerPoint PPT Presentation

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  • Karyotype CuriositiesVisual Aids

  • FertilizationThe fusion of a sperm and egg to form a zygote.

    Once an egg is fertilized, the zygote will go through mitosis to create more cells.The new cells created are stem cells until they are differentiated (told what to become)

    Stem CellsDiploid=2nMITOSIS

  • What is a karyotype?The actual chromosomal map of a cellIs this cell haploid or diploid?How do you know?

  • Why are these chromosomes in Xs?

  • Is this a karyotype of a haploid or diploid cell?How do you know?

  • What makes a male and female different?MALEFEMALE

  • Trisomy & MonosomyCaused by chromosomes not separating completely during meiosis

  • Patau Syndrome(Trisomy 13)

  • Patau Syndrome(Trisomy 13)Facial abnormalities found in an infant with Patau syndrome.

  • Patau Syndrome(Trisomy 13)Infant with Patau syndrome demonstrating facial birth defects.Brain, heart, & spinal cord defectsSmaller eyes

  • Patau Syndrome(Trisomy 13)A rare case of Patau Syndrome survival

  • Patau Syndrome(Trisomy 13)Polydactyly and digit fusion in Patau patients

  • Edwards Syndrome(Trisomy 18)

  • Edwards Syndrome(Trisomy 18)Clubbed hands typical of Edwards syndrome.

    This picture was taken with ultrasound and shows the clubbed hands in utero.

  • Edwards Syndrome(Trisomy 18)Edwards syndrome patient confined to wheelchair because of bone abnormalities.

  • Down Syndrome(Trisomy 21)

  • Down Syndrome(Trisomy 21)Mild to moderate mental disabilityShort statureSimian crease in handFlat nasal bridge

  • Down Syndrome(Trisomy 21)White spots on iris called Brushfield spots result from abnormal aggregation of connective tissue.

  • Jacobs Syndrome (extra Y chromosome) - XYY

  • Jacobs Syndrome (extra Y chromosome)Taller than normal malesSpeech problemsWeaker musclesDelayed pubertyAggressionNormal appearance

  • Klinefelter Syndrome(extra X chromosome in males) XXY

  • Klinefelter Syndrome(extra X chromosome in males) XXYMale appearanceUnderdeveloped testesBreast enlargedLess body hairUsually sterile

  • Trisomy X (XXX)

  • Trisomy X (XXX)No major physical differencesSome may have delayed speechTaller until pubertyScoliosis in some cases

  • Turner Syndrome (monosomy X)

  • Turner Syndrome (monosomy X)

  • Turner Syndrome (monosomy X)

  • Cri du chat Syndrome(chromosome 5 deletion)

  • Cri du chat Syndrome(chromosome 5 deletion)Rounded, moonlike facesCatlike CriesMental Retardation

  • Cri du chat Syndrome(chromosome 5 deletion)

  • Cri du chat Syndrome(chromosome 5 deletion)

  • Cri du chat Syndrome(chromosome 5 deletion)Abnormal outer ear (pinna)