Bio 11 - Genetic Disorders - Aneuploidy

Trisomy 21; intellectual disabilities, abnormal palm crease pattern, almond shaped eyes flattened face, short

Down Syndrome

Trisomy 18; small newborn, low set ears, webbed neck, receding chin, organ malformations

Edward's Syndrome

Trisomy 13; intellectual and physical disabilities, organ defects, cleft palate, deaf

Patau Syndrome

47XXY; breast swelling , unable to produce sperm

Klinefelter Syndrome

XYY; taller than average, fertile, normal intelligence

Jacob's Syndrome

XXX; variable phenotype and usually normal and fertile

Triple X Syndrome

XO (no second chromosome); sexually underdeveloped, short, webbed neck, shield-like chest, only viable monosomy

Turner Syndrome

deletion, children cry a cat-like high pitched squeal, low birth weight, widely spaced eyes, developmental and cognitive delays

cri du chat

translocation; cancer of white blood cells caused by a translocation between chrom. 9 and 22, treated using drug that stops increased white blood cell production

chronic myelogenous leukemia

duplication; overly arched feet, constantly flexed toes, muscle weakness and loss of some sensation in lower legs feet and hands

charcot-marie-tooth disease

inversion; inverted X chrom., low muscle tone, broad toes and thumbs, no cure

FG syndrome