Chromosomal Alteration Syndromes
1. Name of Genetic Disease _______________________
What chromosome is affected? ____________________
How did the genetic alteration happen?: circle one: nondisjunction or changes in base pairs
-Extra skin on the neck
-lymphedema
-a low hairline at the back of the neck
-low-set ears
-infertile
-short fingers and toes
-heart defects
-kidney problems
-sexually immature (lack of breast development)
-1 in 2500 women
-low hairline at the back of the neck
-high blood pressure
-osteoporosis
-hearing impairment
-arms that turn outward at the elbows
2. Name of Genetic Disease _______________________
What chromosome is affected? ____________________
How did the genetic alteration happen?: circle one: nondisjunction or changes in base pairs
-1 in a 1000 boys
-slightly taller than average
-severe acne in some cases
-normal sexual development and fertility
-normal physical characteristics
-learning difficulties
-delayed speech and language skills
-possible behavior problems (thought at one point to be linked to criminal behavior)
3. Name of Genetic Disease _______________________
What chromosome is affected? ____________________
How did the genetic alteration happen?: circle one: nondisjunction or changes in base pairs
-infertile
-reduced facial and body hair
-gynecomastia
-small testicles due to lack of testosterone
-taller
-weak bones
-increased likelihood of breast cancer
-language problems
-underdeveloped muscles
4. Name of Genetic Disease _______________________
What chromosome is affected? ____________________
How did the genetic alteration happen?: circle one: nondisjunction or changes in base pairs
-taller than average
-early onset of menstruation
-learning disabilities
-delayed speech
-delayed development of motor skills
-skinfolds covering the eye
-microcephaly
-weak muscle tone
5. Name of Genetic Disease _______________________
What chromosome is affected? ____________________
How did the genetic alteration happen?: circle one: nondisjunction or changes in base pairs
 may appear normal at birth
 within a few days:
 low appetite
 fussy
 sweet smelling urine
 Elevated levels of amino acids
 If untreated: seizures, coma, death within first few months
6. Name of Genetic Disease _______________________
What chromosome is affected? ____________________
How did the genetic alteration happen?: circle one: nondisjunction or changes in base pairs
 Babies usually have no symptoms at first
 If left untreated, severe brain damage
 can cause :
 epilepsy
 behavioral problems
 stunt the growth of the baby
 Other symptoms include:
 eczema (skin rash)
 a musty body odor
 a small head (microcephaly)
 fair skin
7. Name of Genetic Disease _______________________
What chromosome is affected? ____________________
How did the genetic alteration happen?: circle one: nondisjunction or changes in base pairs
 Symptoms usually appear in the first few months of life
 Babies tend to get one infection after another
 often don't respond to the antibiotics used to treat bacterial infections
 They may suffer more frequently from ear infections, sinus infections, a chronic cough,
and rashes on the skin.
 without quick treatment, children aren't likely to live past age 2.
8. Name of Genetic Disease _______________________
What chromosome is affected? ____________________
How did the genetic alteration happen?: circle one: nondisjunction or changes in base pairs
 Symptoms can include:
 coughing or wheezing
 respiratory illnesses (such as pneumonia or bronchitis)
 weight loss
 salty-tasting skin
 greasy stools
 Because the lungs are clogged and repeatedly infected, lung cells don't last as long as
they should. Therefore, most patients only live to be slightly more than thirty years old.
9. Name of Genetic Disease _______________________
What chromosome is affected? ____________________
How did the genetic alteration happen?: circle one: nondisjunction or changes in base pairs
 Most common form of mental retardation in males & significant cause in females
 Caused by CGG triplet repeat in a DNA segment on the FMR1 gene (normally, the
segment if repeated 5-40 times but in people with this disease the segment is repeated
more than 200 times
 The expanded repeat inactivates the FMR1 gene and causes the symptoms of this disease
 Symptoms include:
 Large head size
 Long face with a prominent forehead/chin & protruding ears
 May have behavioral problems like hyperactivity, hand flapping, hand biting
10. Name of Genetic Disease _______________________
What chromosome is affected? ____________________
How did the genetic alteration happen?: circle one: nondisjunction or changes in base pairs
 Recessive sex-linked disorder
 Bleeding disorder that slows down the blood clotting process
 They have low levels of a blood clotting factor called factor eight or nine.
 Symptoms include:
 Prolonged bleeding after injuries
 Easy or spontaneous bruising
 Spontaneous joint bleeding



May have bleeding in bowel, brain, or soft tissues (which can lead to throwing up
blood or passing blood in the stool
May have strokes or severe pain in joints/limbs
Usually diagnosed within the first year of life
11. Name of Genetic Disease _______________________
What chromosome is affected? ____________________
How did the genetic alteration happen?: circle one: nondisjunction or changes in base pairs
 Caused by a change in a autosomal dominant gene
 Caused by an alteration in 1 of 3 genes possible: PTPN11, SOS1, and KRAS
 characteristic facial appearance.
 Short stature.
 Heart defect present at birth (congenital heart defect).
 A broad or webbed neck.
 Minor eye problems such as strabismus in up to 95 percent of individuals.
 Bleeding problems such as a history of abnormal bleeding or bruising.
 An unusual chest shape with widely-spaced and low set nipples.
 Developmental delay of varying degrees, but usually mild.
 In males, undescended testes (cryptorchidism).
12. Name of Genetic Disease _______________________
What chromosome is affected? ____________________
How did the genetic alteration happen?: circle one: nondisjunction or changes in base pairs
 Extremely rare genetic disease of childhood characterized by dramatic, premature aging
 Effects 1 in 4 million newborns worldwide
 Caused by a tiny point mutation in a single gene known as lamin A (LMNA). It’s caused
by a substitution of 1 base pair among the approximated 25,000 DNA base pairs in the
LMNA gene.
 Symptoms include:
 As newborns, children appear normal
 Within a year, growth rate slows
 Child is much shorter and weigh much less than others their age
 Normal intelligence
 Distinct appearance- baldness, aged-looking skin, a pinched nose, and a small face/jaw
relative to head size
 Suffer from symptoms seen in much older people: stiffness in joints, hip dislocations,
severe cardiovascular disease
 Death occurs on average at 13, usually from heart attack or stroke