COMMON CHROMOSOMAL ABNORMALITIES

Down Syndrome (Trisomy 21)

extra copy of chromosome 21

associated with intellectual disabilities, distinctive facial

features, and an increased risk of certain health issues

Cri-du-chat Syndrome

deletion on the short arm of chromosome 5

may have a distinctive cry resembling a cat

Edwards Syndrome

(Trisomy 18)

extra copy of chromosome 18

associated with severe intellectual disabilities, congenital

heart defects, and abnormalities in various organ systems

Patau Syndrome

(Trisomy 13)

extra copy of chromosome 13

severe developmental and physical abnormalities, including

intellectual disabilities, heart defects, and cleft lip and palate

Prader-Willi Syndrome

genes on chromosome 15 are missing or inactive

intellectual disabilities, obesity, and behavioral issues

Alpha, Antitrypsin Deficiency

mutation in chromosome 14

enzyme deficiency that can lead to cirrhosis of the liver,

emphysema, and degenerative disease in middle age

Alpha Thalassemia

mutation in chromosome 16

severe anemia that reduces the ability of the blood to carry

oxygen, and all affected infants are stillborn or die soon after

birth

Beta Thalassemia

(Cooley’s Anemia)

mutation in chromosome 11

severe anemia resulting in weakness, fatigue, and frequent

illness; usually fatal in adolescence or young adulthood

Cystic Fibrosis

mutation in chromosome 7

overproduction of mucus which collect in the lungs and

digestive tract; children do not grow normally and usually do

not live beyond the age of 30

Anencephaly

influenced by a combination of environmental and genetic

factors associated with the formation and closure of the

neural tube during embryonic development absence of the cerebral hemispheres and the overlying skull and scalp; infants are stillborn or die soon after birth

Spina Bifida

mutation in chromosome 11; the neural tube / spinal column

fails to close properly

muscle weakness or paralysis, loss of bladder and bowel

control, hydrocephalus, and mental retardation

Phenylketonuria (PKU)

caused by the inability to metabolize the amino acid,

phenylalanine

intellectual disability / hyperactivity if left untreated

Polycystic Kidney

Disease

Infantile form: enlarged kidneys, leading to respiratory

problems and congestive heart failure

Adult form: kidney pain, kidney stones, and hypertension

resulting in chronic kidney failure

Sickle-cell Anemia

a recessive gene causes the red blood cell to become a

hook-shaped “sickle” that cannot carry oxygen properly

limits the body’s oxygen supply; joint swelling, and heart / kidney failure

Tay-Sachs Disease

deceleration of mental and physical

development caused by an accumulation of lipids in the

nervous system

Diabetes

body doesn't produce enough insulin, which causes

abnormal metabolism of sugar

Huntington’s Disease

central nervous system deteriorates,

producing problems in muscle coordination and mental

deterioration