Aberrations

Front 1

Autosoman Aneuploidies

Back 1

Down's Syndrome, Edward's Syndrome, Patau's Syndrome.

Front 2

Down's Syndrome

Back 2

Trisomy 21. Phenotype = wide skull, epicanthic fold on eyelids and spots on the iris of the eye. Also
show developmental defects, intellectual impairment and heart defects.

Front 3

Edward's Syndrome

Back 3

Trisomy 18. Phenotype = clenched fists, 2nd and 5th fingers overlapping the ones near them, malformed
feet, intellectual impairment and heart defects.

Front 4

Patau's Syndrome

Back 4

Trisomy 13. Phenotype = cleft lip and palate, eye defects, extra fingers and toes (polydactyly), large
heels, deformation in brain, nervous system and heart.

Front 5

Aneuploidy of Sex Chromosomes

Back 5

Turner's, Klinefelter's, XYY.

Front 6

Turner's Syndrome

Back 6

(45, X) females with short stature, underdeveloped breasts and ovaries, and folds of
skin on the neck. No intellectual impairment.

Front 7

Klinefelter's Syndrome

Back 7

(47, XXY) Phenotype = males with poor sexual development, low fertility and some breast
development in about 1/2 the cases. Intellectual impairment in some cases.
XYY

Front 8

XYY Syndrome

Back 8

(47, XYY) Phenotype = Taller than average. Have been mischaracterized as having aggressive
tendencies- this is not the case. Fertility is normal. Most probably are unaware of having
the extra chromosome.

Front 9

Chromosome Structure Aberration

Back 9

Cri du Chat, Prader-Willi, Fragile X

Front 10

Cri du Chat

Back 10

46, del (5p) Phenotype = defects in development of face and larynx, a cry that sounds like a cat's
meow, intellectual impairment.

Front 11

Prader-Willi

Back 11

46, del (15q) Phenotype = uncontrolled eating leading to obesity, poor sexual development in males,
intellectual impairment and behavioral problems.

Front 12

Fragile-X

Back 12

Phenotype = Mostly in males. Long narrow faces, protruding chin, and large ears and
intellectual impairment.