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Human Genetic Disorders

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Presentation on theme: "Human Genetic Disorders"— Presentation transcript:

1 Human Genetic Disorders
Their symptoms…

2 Crouzon Syndrome genetic disorder, skull bones fuse, 1-25,000 are affected

3                                                                  Meet Kenadie! Kenadie 3yrs.old Tyran 18mths.

4 Primodial Dwarfism

5 Children with Down’s syndrome Trisomy 21

6 Down’s Syndrome Nondisjunction

7 Patau Syndrome  extra chr. #13
Severe abnormal brain function Facial malformations Usually die in early infancy

8 Edward Syndrome  extra chr. #18
Severe mental retardation Characteristic malformations of skull, pelvis and feet Die in early infancy

9 Klinefelters Syndrome XXY Nondisjunction
Tallness with extra long arms and legs Abnormal body proportions (long legs, short trunk) Lack of facial and body hair Sterile Learning disabilities Personality impairment

10 Turners syndrome “X” Nondisjunction
MONOSOMY – 45 chromosomes (missing X chromosome FEMALE – usually infertile MOSAIC  mutation occurs in SOME of their cells (not all cells) 1 in 2,500 females born with Turners

11 Symptoms of Turner Syndrome
short stature webbed skin of the neck drooping eyelids absent secondary sex characteristics infertility

12 Webbed Neck

13 Mom and her daughter with Turner’s Syndrome

14 XYY Syndrome: *

15 XXX Syndrome 47 Chr. Sometimes sterile Normal mental ability
Sometimes taller

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