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 *

Physical Symptoms of Downs Syndrome Decreased or poor muscle tone Short neck, with excess skin at the back of the neck Flattened facial profile and nose Small head, ears, and mouth Upward slanting eyes, often with a skin fold that comes out from the upper eyelid and covers the inner corner of the eye Wide, short hands with short fingers A single, deep, crease across the palm of the hand A deep groove between the first and second toes

Intellectual and Developmental Symptoms Short attention span Poor judgment Impulsive behavior Slow learning Delayed language and speech development

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