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Terms in this set (40)
What is the most common chromosomal abnormality in live births? ( pop corn)
Trisomy 21- Down syndrome
Most common non lethal trisomy
What are the two types of testing for Down syndrome
Factors of Down Syndrome?
Increase incidence with maternal age:
Age 35 1:400 Age 45 1: 35
What is the second least type of abnormality that causes Down syndrome?
Most common is Trisomy 21
4% is Robertsonian translocation.
How is the trisomy formed?
Gametes have 2 copies of chromosome 21- leads to trisomy when fertilized.
Conditions and problems of Down Syndrome?
Characteristic facial appearance
1/2 can develop Alzheimers.
Another visual appearance of Down Syndrome is?
Single transverse palmar crease.
Trisomy 13 is also called?
Defects of Trisomy 13 ( patau syndrome) is?
Severe intellectual disability
Cleft and lip palate
And many physical abnormalities.
Most children die in the first few days.
Common cause of Trisomy 13
3 copies of chromosome 13
Some caused by Robertsonian translocation with chromosome 13 and 14.
- when part of the chromosome 13 gets attached to chromosome 14 during formation of gametes.
- 2 normal copies of 13 plus an extra copy attached to another chromosome.
Second most common type of trisomy
Edwards Syndrome- trisomy 18
- 3 copies of chromosome 18
Many die before birth.
What are the characteristics of Edwards Syndrome?
Club foot ( Rocker bottom feet)
Low set ears, small jaw.
Increased risk with
advanced maternal age
intrauterine growth retardation
1:500- live born infants.
Deletion of part of short arm ( p ) of chromosome 5
Characteristics of Cri-du-chat Syndrome ( 5):
Cat-like-cry ( larynx affected)
Wide set eyes and low ears
Extra X chromosome, 47XXY
- occurs during gametogenisis
Who does it affect most?
Affect male physical and cognitive development
- Gynecomastia, reduced hair
What are the characteristics of Klinefelter's Syndrome?
45 X, monosomy
affects development in females.
Who does Turner Syndrome affect?
Gonadal dysgenesis- non functional ovaries.
Characteristics of Turners Syndrome?
non- functional ovaries in females
happens in females with Turner Syndrome
A neurodegenerative disease- progressive brain disorder.
Progressive neural dysfunction
HD gene on chromosome 4* ( huntingtin protein)
CAG trinucleotide repeat*
Only human disorder of complete dominance ( HH, Hh)
Uncontrolled movements, jerking= chorea
Early signs: depression, irritation trouble learning.
Latent 3-5 decades
15 years onset to death
50% offspring inheritance
Early Onset Alzheimer's Disease
Multiple generations affected
Mutation on the chromosomes 1,14,21*
"Sticky protein forms clumps in brain
APP gene mutation*
Symptoms start before age of 65*
Polycystic Kidney disease
PKD1 and PKD2 genes mutation*
Inherited 90% of the time
sx start in adulthood
Kidney enlarges, clusters fluid filled cysts on kidneys*
- affects the ability to filter blood, kidney fails and becomes enlarged
Hypertension, back pain, hematuria, UTI, stones.
Hereditary Breast Ovarian Cancer syndrome
BRCA on chromosome 17
Normal suppressor genes that are mutated.
Not all families with gene more get hereditary breast cancer
Test individuals NOT affected.
BRCA2 chromosome 13*
( male breast cancer, ovarian and prostate cancer.
Risk factors: age, gender, FH
Familial Adenomatous polyposis
FAP, <1% colorectal cancer
APC ( adenomatous polyposis coli) gene mutation
- normally a suppressor on chromosome 5
Risk of developing colorectal cancer is near 100% with gene mutation.
Polyps on colon begin in adolescence
Total colectomy before age 20
Patterns without identifying specific mutation*
Hereditary Nonpolyposis Colorectal Cancer
Lynch Syndrome/ HNPCC
2-3% of colorectal cancer
Adenoma--> cancer faster transition
Early 30's to 40's
50% cancer in Women
70% in male
Associated with other forms ( uterus, ovaries, urinary tract, small bowel, bile duct)
Colonoscopy at age 25 for relatives.
Upper endoscopy every 2 years
Fibrin-1 gene mutation ( FBN1)
Connective Tissue defect
Dislocated lens of eye*
Long thin arms+legs
Arm span wider than body hight
Long Narrow face
Flimsy heart valve
Avoid contact sports and caffeine.
Neurofibromatosis Type I
Von Recklinghausen disease*
NF1 gene on chromosome 17 mutation*
-tumor suppressor gene
Growth of neurofibromas on skin and brain*
Cafe-au-lait spots ( hyperpigmentation)
Lisch nodules in iris
Freckles in axilla and groin
Sickle Cell Disease
Mutation on HBB gene
Atypical hemoglobin molecule ( hemoglobin S)*
Most common inherited blood disorder*
Crescent shape of RBC
RBC abnormal shape break down prematurely*
anemia ( clogged up)*
Ancestors from Africa, Turkey, Greece, India, South America
Can't get malaria with SCD
Polycystic Kidney Disease
PKHD gene mutation.
Rare, lethal early in life.
cluster of fluid sacs on kidneys
Kidneys enlarge and fail
Disturbs Cl transport, Salt increase in sweat*
Infertility in males*
Thick, sticky mucous obstructing airways in lungs + pancreas ducts
- inherited fecal obstruction
Most common morbidity of pulmonary disease *
Infection in the lungs
Sinus infection in kids chronic
Common in white population
Sweat chloride test.
Most common form of dementia in elderly*
After age 60
Death within 10 years
Formation of plaques and tangles in the brain*
Familial( early onset, before age of 60) + Sporadic ( late onset- most common, after age of 60)
Sporadic late onset AD
Chromosome 19 apolipoprotein E ( APOE) gene mutation*
After age 65, most case
Not everyone develops disease
Autopsy plaques + tangles
Hereditary Breast and Ovarian Cancer Syndrome
BRCA1 ( chromosome 17) , BRCA 2( chromosome 13) - suppressor genes.
( control cell growth, DNA repair)
Risk factors: gene, age, FH
predispositioning genetic factor*
Early age of breast cancer <50*
FH both breast and ovarian cancer
Sporadica or Familial*
HNPCC ( lynch syndrome) vs FAP( <1%)
Interactions of both genetic and environmental factors
genetic predisposition, FH
Diet, lack of exercise,
Chronic Myelogenous leukemia
Translocation between chromosome 9 and 22
Stem cells --> WBC increase
take up bone marrow space
common in Men, age 55yrs
infection, night sweats, fever, anemia, bleeding, fatigue.
Mutation of F8 and F9
- factor VIII deficiency
- more common hemophilia A( classic hemophilia)
- factor IX deficiency
- hemophlia B ( christmas hemophilia)
Hemarthrosis - bleeding of joints
Prolong bleeding oozing of blood
Mostly males affected.
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