Human Genetic Disorders - Monroe Township School District

Human Genetic Disorders Their symptoms Crouzon Syndrome genetic disorder, skull bones fuse, 125,000 are affected

* Meet Kenadie!

Kenadie 3yrs.old Tyran 18mths. Primodial Dwarfism Children with Downs syndrome Trisomy 21

* Downs Syndrome Nondisjunction

* Patau Syndrome extra chr. #13

Severe abnormal brain function Facial malformations Usually die in early infancy Edward Syndrome extra chr. #18

Severe mental retardation Characteristic malformations of skull, pelvis and feet

Die in early infancy 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 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

Symptoms of Turner Syndrome short stature webbed skin of the neck drooping eyelids

absent secondary sex characteristics infertility Webbed Neck Mom and her daughter with Turners Syndrome

* XYY Syndrome:

* XXX Syndrome

47 Chr. Sometimes sterile Normal mental ability Sometimes taller

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