1 / 30

Chromosomal Karyotypes

Chromosomal Karyotypes. Chromosomes. Definition Genetic structures of cells containing DNA Identification Each chromosome has a characteristic length and banding pattern. The breakdown of a Chromosome. Each autosome is numbered from 1-22, sex chromosomes either X or Y. p arm (short arm).

mervin
Download Presentation

Chromosomal Karyotypes

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Chromosomal Karyotypes

  2. Chromosomes Definition • Genetic structures of cells containing DNA Identification • Each chromosome has a characteristic length and banding pattern

  3. The breakdown of a Chromosome • Each autosome is numbered from 1-22, sex chromosomes either X or Y p arm (short arm) q arm (long arm) Centromere

  4. Chromosome Labeling Example - 1q2.4 • The first chromosome, long arm, second region of the chromosome, the fourth band of that sub-region Each arm divided into sub-regions and identified by a number Each sub-region divided into bands identified with a number Chromosome is identified with a number ranging 1-22, or X and Y

  5. 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 X Y A Karyotype Definition • A photographic arrangement of a complete set of chromosomes of a cell or organism

  6. Obtaining a Sample • Fetal samples for karyotypes are commonly obtained in two ways 1. Amniocentesis – sample taken from the fluid of the amniotic sac 2. Chorionic Villus Sampling – sample taken from fetal tissue that forms part of the placenta

  7. Obtaining a Karyotype • Chromosomes are stained for easy visualization • Light microscope used to view chromosomes in metaphase of mitosis • Chromosomes arranged into homologous pairs based on size and banding patterns

  8. Staining Banding patterns can be visually identified on chromosomes after staining. Traditional Types • G-Banding – Giemsa stain • Q-Banding – Fluorescent stain • R-Banding – Reverse Giemsa stain New Type • Fluorescence In Situ Hybridization techniques

  9. Importance of Karyotypes • Karyotypes show the chromosomal makeup of an individual. • Knowing the number of chromosomes is essential for identifying chromosomal variations that cause genetic disorders…

  10. Overview I. Chromosomal Variations A. Polyploidy B. Aneuploidy II. Syndromes resulting from Aneuploidy A. Trisomy 13 B. Trisomy 18 C. Down Syndrome D. Turner Syndrome E. Klinefelter Syndrome F. XYY Syndrome

  11. Variations in Chromosomal Number • Euploidy – the normal number and sets of chromosomes • Polyploidy – the presence of three or more complete sets of chromosomes • Aneuploidy – the presence of additional or missing individual chromosomes

  12. Types of Polyploidy • Triploidy – three sets of chromosomes 23 x 3 = 69 • Tetraploidy – four sets of chromosomes 23 x 4 = 92

  13. Types of Aneuploidy • Monosomy – one less chromosome (23 x 2) – 1 = 45 • Trisomy – one additional chromosome (23 x 2) + 1 = 47

  14. Aneuploidy in Humans • When aneuploidy occurs in humans, syndromes can result. 1. Trisomy 13 2. Trisomy 18 3. Down Syndrome 3. Turner Syndrome 4. Klinefelter Syndrome 5. XYY Syndrome

  15. Trisomy 13 (Patau Syndrome) • Chromosomal Variation – Trisomy 13 (three copies of chromosome 13) • Occurrence – 1 in 5000

  16. Features of Trisomy 13 • Severe mental retardation • Head and facial abnormalities • Extra fingers and toes • Kidney malformations • Heart defects • Early death < 1 year

  17. Trisomy 18 (Edwards Syndrome) • Chromosomal Variation – Trisomy 18 (three copies of chromosome 18) • Occurrence – 1 in 8000 Syndactyly

  18. Features of Trisomy 18 • Severe mental retardation • Head and facial malformations • Malformations of the hands and feet • Skeletal malformations • Kidney malformations • Structural heart defects • Early death < 1 year

  19. Trisomy 21 (Down Syndrome) • Chromosomal Variation – Trisomy 21 (three copies of chromosome 21) • Occurrence – 1 in 800-1000

  20. Features of Down Syndrome • Low muscle tone • Head and facial malformations • Abnormalities of the extremities • Mental retardation • Heart malformations • Increased risk of infectious disease • Early death

  21. Turner Syndrome • Monosomy of sex chromosome (only one X chromosome present) • Occurrence – 1 in 2500 live female births

  22. Features of Turner Syndrome • Short stature • Lack of ovarian development • Neck abnormalities • Skeletal disorders • Increased risk of osteoporosis, cardiovascular constriction, diabetes, and kidney and thyroid problems

  23. Klinefelter Syndrome • Trisomy of sex chromosome - XXY (An additional X chromosome in males) • Occurrence – 1 in 500-1000 males

  24. Features of Klinefelter Syndrome • Tall • Sexually underdeveloped • Infertility • Sparse facial and body hair • Developmental delays • Increased risk of autoimmune disorders, breast cancer, osteoporosis, leg ulcers, depression, and dental problems

  25. XYY Syndrome • Trisomy of sex chromosome – XYY (An additional Y chromosome in males) • Occurrence – 1 in 1000-2000 men

  26. Features of XYY Syndrome • Taller • Comparatively low weight relative to stature • Larger craniofacial dimensions • Severe acne in adolescence • Behavior problems – (prisoners) • Learning disabilities • Slightly lower IQ than normal • High testosterone levels

More Related