Human Genetic Disorders Their symptoms…. Crouzon Syndrome genetic disorder, skull bones fuse, 1-...

Human Genetic

DisordersTheir symptoms…

Crouzon Syndromegenetic disorder, skull bones fuse, 1-25,000 are affected

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

Primodial Dwarfism

Children with Down’s syndromeTrisomy 21

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Down’s SyndromeNondisjunction

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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 XXYNondisjunction 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 Turner’s Syndrome

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XYY Syndrome: *

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