Down Syndrome

Physical Characteristics
• Short stocky bodies
with thick hands and
feet
• Broad short heads,
small ears, slanted
eyes
• Flattened noses
• Large ridged tongues
• Low muscle tone,
loose joints
 Medical Complications
• Epilepsy • Hernias
• Hypothyroidism • Sterility in males
• Crossed eyes • Females are fertile but
• Cataracts can pass on DS
• Hearing impairment • Accelerated Aging
• Heart defects with high chance of
Alzheimer’s disease
• Childhood leukemia is
20% more common
Types of Down Syndrome
 Trisomy 21
 Mosaic Down Syndrome
 Translocation Trisomy 21
Trisomy 21
 Found in 92% of all DS individuals
 Caused by nondisjuction in meiosis, causing
eggs to have trisomy 21
 Increases in incidence with maternal age, but
also found in younger mothers
 Children born immediately after DS children
have a higher chance of also having DS,
however, for other siblings, the risk for
having DS does not increase
Nondisjunction
Mosaic DS
 2-4% of the DS population
 Starts off with 23 pairs of chromosomes in
each cell
 Error occurs in an early cell division
 During embryonic development, a random
cell will acquire trisomy 21, creating 2
individual cell lines (normal and trisomatic)
 The earlier the mutation occurs, the more
profound the effects
Mosaic DS
Translocation DS
 3-4% of the DS population
 A Robertsonian translocation occurs when
one chromosome 21 attaches to another
chromosome, forming a single
new,chromosome
 The recipient chromosome is usually
chromosome 14 and the combination of the 2
chromosomes is called a fourteen, twenty one
translocation
 Can also switch with 13, 15, or 22
Translocation DS
 About ¼ of Translocation DS is inherited
 The parent is then called a translocation
carrier
 Parent has one normal copy of 21 and one
copy of 21 attached to another chromosome
 Both copies are then passed on
 When fertilization occurs, embryo contains
both copies of 21 from the carrier parent, and
the normal one copy or 21 from the normal
parent
 Effects are similar to Trisomy 21 DS
Translocation DS