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Chromosomes. Chromosome Abnormalities Numerical abnormalities Structural abnormalities Mixoploidy.

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Presentation on theme: "Chromosomes. Chromosome Abnormalities Numerical abnormalities Structural abnormalities Mixoploidy."— Presentation transcript:

1 Chromosomes

2 Chromosome Abnormalities Numerical abnormalities Structural abnormalities Mixoploidy

3 Numerical Abnormalities Monosomy Trisomy

4 A. B. C.

5 Non-disjunction

6 Consequence of non-disjunction Trisomy – (21) Down syndrome – (13) Patau syndrome – (18) Edward’s syndrome

7 Polyploidy Addition of one or more entire set of chromosomes

8 Disorders of Chromosome Number Down Syndrome Patau and Edwards Syndrome Klinefelter Syndrome Turner Syndrome XXX Females and XYY Males

9 Down Syndrome

10 History – 1866 first clinically described by Dr. Down – 1959 chromosomal basis discovered Incidence 1 in 691 births in the US – Majority of cases are diagnosed prenatally (~60%) Prevalence: currently 400,000 in US

11

12 Patau Syndrome

13 Heart defects Brain or spinal cord abnormalities Weak muscle tone Prognosis – 45% die within few days/weeks – 80% within 1 st year

14 Edwards Syndromes

15 Edward’s syndrome Clinical symptoms – Structural heart defects – Intestinal abnormalities – Breathing difficulties – Intellectual disability Prognosis – Median lifespan – 5-15 days – Longer than 1 year – 8% – Live to 10 years- 1%

16 Klinefelter Syndrome

17 Klinefelter Syndrome (XXY) Incidence- 1 in 1000 live male births Clinical features- – Lower than normal verbal IQ – Infertility Testosterone treatment

18 Turner’s Syndrome

19 Turner Syndrome (X) Incidence- 1 in 5000 – 10,000 female births Clinical features – Loss of ovarian function – Normal intelligence – Developmental delay – Learning disability Estrogen treatment from puberty on

20 https://www.youtube.com/results? search_query=turner%27s+syndro me&sm=3


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