A LISTING OF MAJOR GENETIC AND CHROMOSOMAL DISORDERS

INTRODUCTION
Chromosomes are structures within cells that contain a person's genes.
A gene is a segment of deoxyribonucleic acid (DNA) and contains the code for a specific protein that
functions in one or more types of cells in the body. Every normal human cell, except for sperm and egg
cells, has 23 pairs of chromosomes for a total of 46 chromosomes. Sperm and egg cells have only one of
each pair of chromosomes for a total of 23. Each chromosome contains hundreds to thousands of genes.
There are 2 sex chromosomes, called X and Y. Females typically have two X chromosomes (XX) and males
typically have one X and one Y chromosome (XY).
Chromosome abnormalities can affect any chromosome, including the sex chromosomes. Chromosome
abnormalities affect the:
 Number of chromosomes -- when a person has one or more extra copies of a chromosome (one extra
is trisomy, and two extra is tetrasomy) or is missing a chromosome (monosomy).

 Structure of chromosomes -- when part of a chromosome is abnormal. Sometimes part or all of a

chromosome incorrectly joins with another chromosome (called translocation). Sometimes parts of
chromosomes are missing (called deletion) or have been duplicated.

Some chromosome abnormalities cause the death of the embryo or fetus before birth. Other abnormalities
cause problems such as intellectual disability, short stature, seizures, heart problems, or a cleft palate.

Gene abnormalities
Small changes (mutations) may occur in a specific gene. These changes do not affect the structure of the
chromosomes and thus cannot be seen on karyotype analysis or other chromosomal tests. More specific
genetic testing is required. Some mutations in a gene cause no problems and some cause few or only mild
problems. Other mutations cause serious disorders such as sickle cell anemia, cystic fibrosis, and muscular
dystrophy. Increasingly, medical scientists are finding specific genetic causes of children's diseases.

(MSD Manual Consumer Edition, n.d.)

MAJOR GENETIC AND CHROMOSOMAL DISORDERS
# DISORDER DESCRIPTION INCIDENCE CAUSE
Multiple causes
Two sides of upper including genetic,
1. Cleft Palate and Cleft Lip lip or palate fail to 1 in 700 births prenatal insults,
close malnutrition and
drugs
Ankle and Foot
2. Club Foot deformities, foot 1 in 400 births Many factors
twisted in and down
Heart Defects of Many factors,
3. Congenital Heart Defects varying degrees of 1 in 175 births often cause is
severity unknown
Cystic fibrosis is a
progressive, genetic
disease that causes
persistent lung
Two abnormal
4. Cystic Fibrosis infections and limits
1 in 1000 births recessive genes
the ability to
breathe over time.
This is due to an
enzyme deficiency.
Partially genetic
Estimated up to 5
Pancreatic problem (recessive
million American’s
resulting in transmission)
5. Diabetes affected. 1 child in
insufficient insulin environmental
2500 have juvenile
production variables must also
diabetes
be considered
Distinct variation in 1 in 600 births Chromosomal
6. Down’s Syndrome physical 1 in 50 in older abnormality. Extra
appearance. parents chromosome #21
Lack of blood One in 10, 000
7. Hemophilia Sex linked disorder
clotting births
Deterioration of
central nervous
8. Huntington’s Chorea Extremely rare Dominant gene
system and body
during middle age
Excess fluid buildup
9. Hydroencephalus 1 in 500 births Many factors
in brain
Abnormal sexual
development, Chromosomal
absence of 1 in 600 male abnormality XXY
10. Kleinfelter’s Syndrome
secondary sex births configuration on
characteristics. 23rd chromosome.
Noticed in teens.
# DISORDER DESCRIPTION INCIDENCE CAUSE
Progressive
muscular
Duchenne only
deterioration; many 200, 000
affects boys, it is X
diseases may fall Americans have
11. Muscular Dystrophy linked; other
into the category. some form of the
forms may follow
The most common disease
other patterns
form, Duchenne,
begins in childhood
1 in 10000 births,
Inability to process Two abnormal
12. Phenylketonuria mostly among
phenylalanine recessive genes
North Europeans
Digestive difficulties
due to an
overgrowth of
muscles in the lower
stomach. 1 in 200 boys
13. Pyloric Stenosis Many factors
Identification in 1 in 1000 girls
early infancy since
infants do not keep
food down and do
not gain weight
If mother is Rh
negative and baby
is Rh positive,
7000 babies per some of the
14. Rh Disease Blood disorder
year mother’s
antibodies may kill
baby’s red blood
cells
Blood disorder
1 in 400-600
causes damage to
Africans; Two abnormal
15. Sickle Cell Anemia vital organs;
1 in 1000-1500 recessive genes
diagnosed through
Hispanics
blood test
Spine fails to close;
16. Spina Bifida 1 in 1000 births Many factors
noticeable at birth
Enzyme deficiency
causes buildup of
fat in nerve cells;
leads to retardation,
1 in every 25 Abnormal
17. Tay Sachs Disease blindness and
American Jews recessive gene
convulsions;
identified through
exaggerated infant
startle response
 # DISORDER DESCRIPTION INCIDENCE CAUSE
3 to 10 percent of
Severe anemia and
Greeks and Italians
Thalasemia (Cooley’s listlessness, Abnormal
18. are carriers, about
Anemia) identified through recessive gene
1000 cases per
blood test
year
Short statue,
Chromosomal
delayed sexual
problem. Forty
development,
One in every 2000- Five
19. Turner’s Syndrome infantile genitalia,
3000 live births chromosomes;
swelling of feet
single X on 23
hands and neck,
chromosome
heart abnormalities

Major Chromosomal or Genetic Diseases

 Hemophilia
 Sickle Cell Anemia
 Diabetes
 Muscular Dystrophy
 Phenylketonuria
 Cystic Fibrosis
 Down’s Syndrome
 Turner’s Syndrome
 Tay Sachs Disease
 Rh Disease

Reference:
A Child’s Odyssey – Child and Adolescent Development
Paul S. Kaplan
West Publishing Company - 1986