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Human Genetic
DisordersTheir symptoms…
Crouzon Syndromegenetic disorder, skull bones fuse, 1-25,000 are affected
*
Meet Kenadie! Kenadie 3yrs.old Tyran 18mths.
Primodial Dwarfism
Children with Down’s syndromeTrisomy 21
*
Down’s SyndromeNondisjunction
*
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