Human Genetic Disorders Their symptoms…

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

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

Primodial Dwarfism

Children with Down’s syndrome Trisomy 21 *

Down’s 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 Turner’s Syndrome *

XYY Syndrome: *

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