human genetic disorders their symptoms…. crouzon syndrome genetic disorder, skull bones fuse, 1-...
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Human Genetic
DisordersTheir symptoms…
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Crouzon Syndromegenetic disorder, skull bones fuse, 1-25,000 are affected
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Meet Kenadie! Kenadie 3yrs.old Tyran 18mths.
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Primodial Dwarfism
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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
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Edward Syndrome extra chr. #18
Severe mental retardation Characteristic malformations of skull, pelvis
and feet Die in early infancy
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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
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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
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Symptoms of Turner Syndrome
short stature webbed skin of the neck drooping eyelids absent secondary sex characteristics infertility
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Webbed Neck
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Mom and her daughter with Turner’s Syndrome
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XYY Syndrome: *
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XXX Syndrome 47 Chr. Sometimes sterile Normal mental ability Sometimes taller