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Presentation on theme: "Karyotypes."— Presentation transcript:

1 Karyotypes

2 Karyotypes A picture of someone’s chromosomes Centromere

3 Has 46 chromosomes for humans
Normal Karyotypes Has 46 chromosomes for humans Arranged in 23 pairs

4 Female Sex is determined on the 23rd Pair.
Both chromosomes are “X” chromosomes X

5 *One chromosome is “X” and the other is a “Y” chromosome
Male * Sex is determined on the 23rd pair. *One chromosome is “X” and the other is a “Y” chromosome

6 Trisomy 21 – Down Syndrome
Extra Chromosome on 21 Total of 47 Chromosomes

7 Symptoms: Flat Face Small Broad Nose Upward Slanted Eyes
Moderate to Severe Retardation Some Medical Problems (Heart Defects) 90% of cases come from the mother’s egg.

8 Down Syndrome Karyotype

9 Trisomy 13 – Patau Syndrome
Extra Chromosome on 13 Total of 47 Chromosomes

10 Symptoms: Cleft lip or palate
Close-set eyes -- eyes may actually fuse together into one Decreased muscle tone Extra fingers or toes Mental retardation

11 Patau Syndrome Karyotype

12 Klinefelter’s Syndrome (XXY)
Extra Sex Chromosome “X” Total of 47 Chromosomes

13 Symptoms: Tall Stature Sometimes Lack Facial Hair
More Breast Tissue than Normal Small Testes Sterile

14 Klinefelter’s Syndrome Karyotype

15 Turner’s Syndrome (X-)
Missing an X chromosome on 23rd Pair.

16 Symptoms: Infertile Lack Ovarian Development Short Stature
Short Webbed Neck In 75-80% of cases, the father’s sperm is missing the X chromosome.

17 Turner’s Syndrome Karyotype

18 Androgen Insensitivity Syndrome (AIS)
Genetic make-up of an XY male Develop as a Female Resistant to Androgens the hormones responsible for male sexual development * EX: JAMIE LEE CURTIS

19 2 Types: Complete AIS: 1 in 20,000 births
Prevents development of Penis and other male body parts. Look like females, have no uterus and no menstruation.

20 Incomplete AIS: Both male and female characteristics
Has a vagina, but no uterus or cervix Enlarged Clitoris Testes in the abdomen or unusual places

21 XYY Syndrome Occurs on 23rd pair, extra “Y” Very Tall
Extra Acne during Adolescence Sometimes develop Learning Disabilities

22 XYY Syndrome Karyotype


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