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Genetics Quiz #2
Summer II 2011
141
Medical
Graduate
07/17/2011

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Cards

Term
What are the three main categories of genetic disorders?
Definition
chromosomal,
single-gene
and multifactoral
Term
What are the different types of single gene inheritance?
Definition
Recessive inheritance
Dominant inheritance
X-linked inheritance
Mitochondrial inheritance
Term
When are single gene inherited genetic disorders most often seen?
Definition
Seen in peds
Term
Who do Autosomal disorders affect more, males or females?
Definition
males and females equally
Term
Who are X-linked disorders seen most often in?
Definition
in males because they are hemizygous (one X)
Term
What are most recessive disorders due to?
Definition
due to loss of function mutations - usually the mutation impairs or eliminates the function of an enzyme
Term
Which type of dominant disorder is MC seen?
Definition
Incompletely dominant
Term
What are the three types of dominant disorders?
Definition
Purely dominant
Codominant
Incompletely dominant
Term
With an autosomal recessive trait, if the parents are carriers, what is the % chance of any of their offspring having the disorder?
Definition
25%
Term
In which sex is hemochromatosis MC?
Definition
more common in men due to less iron storage in females
Term
What is the most common autosomal recessive disorder in Caucasians?
Definition
Cystic Fibrosis
Term
In which type of population is Tay-sachs dz most prevalent?
Definition
Ashkenazi Jews
Term
In which population is Xeroderma pigmentosum seen most often in?
Definition
seen most often in offspring of marriages between first cousins
Term
50 y/o male Pt presents with fatigue, new diabetes diagnosis and a deepening in skin tone. What condition do you suspect?
Definition
Hemochromatosis
Term
How is hemochromatosis inherited (what type of inheritance)?
Definition
Autosomal Recessive
Term
When is the general onset of hemochromatosis?
Definition
40 - 60 y/o in males; Following menopause in females
Term
What are the S & S of hemochromatosis?
Definition
Heart arrhythmias, cardiomyopathy, bronze skin, arthritis, hair loss, memory loss, vertigo, hepatomegaly, DM, Testicular atrophy
Term
When is the onset of cystic fibrosis?
Definition
neonatal to adulthood
Term
What genetic condition is described as progressive pulmonary disease, pancreatic insufficiency, decreased male fertility, failure to thrive?
Definition
Cystic Fibrosis
Term
What type of inheritance controls cystic fibrosis?
Definition
Autosomal Recessive
Term
What gene is mutated in cystic fibrosis?
Definition
CFTR gene
Term
What genetic disorder is described as a disorder of epithelial ion transport caused by mutations?
Definition
Cystic Fibrosis
Term
If both parents are carriers of the cystic fibrosis gene, what are the chances of any of the children having Cystic Fibrosis?
Definition
25%
Term
At birth, what may be indicative of cystic fibrosis, as it is found in 20% of pts?
Definition
20% have a meconium ileus at birth
Term
What genetic disorder is described as a disorder of ganglioside catabolism caused by a deficiency of hexosaminidase A (an enzyme)?
Definition
Tay-Sachs disease
Term
Which disorder is a disease of lysosomal storage?
Definition
Tay-Sachs disease
Term
When is the general onset of Tay-Sachs disease?
Definition
Infancy = most severe
adolescent or adult = less severe
Term
What is the prognosis for a pt with infant onset Tay-Sachs disease?
Definition
Death between age 2 and 4
Term
What visual changes can be seen in pts with Tay-Sachs disease?
Definition
Visual loss within the first year
Cherry red spot on macula
Term
When is Xeroderma pigmentosum diagnosed?
Definition
seen initially in toddlers
Term
What genetic condition is described as marked UV light sensitivity, excess skin CA and neurological dysfunction?
Definition
Xeroderma pigmentosum
Term
What type of inheritance controls Tay-Sachs disease?
Definition
Autosomal Recessive
Term
What type of inheritance is Xeroderma pigmentosum?
Definition
Autosomal recessive
Term
Which type of genetic inheritance type appears in EVERY generation, and can affect males and females equally?
Definition
Autosomal dominant
Term
If a parent has an autosomal dominant trait, what is the chance that any of their children can inherit it?
Definition
50%
Term
Which genetic disorder is described as disorder of cholesterol and lipid metabolism?
Definition
Familial hypercholesterolemia
Term
In Familial hypercholesterolemia, what are the cholesterol levels?
Definition
between 600 – 1000
Term
What is the prognosis for familial hypercholesterolemia?
Definition
Early atherosclerosis and death by age 30
Term
What type of inheritance controls familial hypercholesterolemia?
Definition
Autosomal dominant
Term
What is the treatment for familial hypercholesterolemia?
Definition
Aggressive treatment of LDL cholesterol levels drastically modifies the course of the disease
Term
What is a male and female heterozygote's risk of developing CAD by age 70, if they have familial hypercholesterolemia?
Definition
Males 100% risk by age 70
Females 75% risk by age 70
Term
On which chromosome is the defect in familial hypercholesterolemia?
Definition
chromosome 19
Term
For which disease are xanthomas and arcus corneae signs?
Definition
Familial hypercholesterolemia
Term
What condition is described as progressive motor, cognitive, and psychiatric disorder?
Definition
Huntington disease
Term
What about the genetics of Huntington's causes a variation in the degree of severity?
Definition
Mutation is a triple repeat expansion – the more repeats the more severe the disease
Term
When is the onset of Huntington's disease?
Definition
late childhood to late adulthood (35-45 yrs old)
Term
What is the mean age of death in Huntington's pts?
Definition
Mean age at death – 54-55 yrs old
Term
What is the MC sx in Huntington's dz?
Definition
Chorea (occurs in 90% of pts)
Term
What type of inheritance controls Huntington's dz?
Definition
Autosomal Dominant
Term
What is different about the inheritance of Neurofibromatosis?
Definition
often from new mutations
Term
What is the general onset of Neurofibromatosis?
Definition
prenatal to late childhood with skin lesions and tumors, and eye manifestations
Term
What autosomal dominant condition affects the bones, the nervous system, soft tissue, and the skin causing skin lesions, tumors, and eye manifestations ?
Definition
Neurofibromatosis
Term
What skin lesions are associated with neurofibromatosis?
Definition
cafe' au lait spots; Lisch nodules
Term
What are freckles in the axilla or groin called? What disease are they associated with?
Definition
Crowe's sign; Associated with Neurofibromatosis
Term
What type of inheritance controls Polycystic kidney disease?
Definition
Autosomal Dominant
Term
What genetic condition causes progressive renal failure and hypertension?
Definition
Polycystic Kidney Disease
Term
When is the onset of Polycystic kidney disease?
Definition
Onset in childhood, but over 80% of pts have renal cysts by age 20
Term
Which genetic condition causes renal cysts, as well as the development of hepatic, pancreatic, ovarian or splenic cysts, intracranial aneurysms, mitral valve prolapse and colonic diverticula?
Definition
Polycystic Kidney Disease
Term
What is the MCC of dwarfism?
Definition
Achondroplasia
Term
What d/o is described as skeletal disorder causing short limbed dwarfism and a large head, and Normal intelligence?
Definition
Achondroplasia
Term
Do Achondroplasia dwarfs have normal intelligence?
Definition
Yes
Term
Which type of Achondroplasia dwarfs are much more severely affected, often not even surviving the postnatal period?
Definition
Homozygotes
Term
Approximately how many genes are on the X chromosome? How much of them are presently known to be disease phenotypes?
Definition
1100 genes; 40%
Term
In X-linked recessive, who is MC affected, males or females?
Definition
Males
Term
Are X-linked recessive genes passed from father to son?
Definition
No,
Term
What are three examples of X-linked recessive disease conditions?
Definition
Duchenne muscular dystrophy
Hemophilia A
Fragile X syndrome
Term
What type of inheritance controls Duchenne muscular dystrophy?
Definition
x-linked recessive; Mosaicism
Term
What type of inheritance controls Hemophilia A?
Definition
x-linked recessive; Mosaicism
Term
What type of inheritance controls Fragile X-syndrome?
Definition
X-linked recessive
Term
What genetic disease is described as progressive myopathy resulting in muscle degeneration and weakness?
Definition
Duchenne muscular dystrophy
Term
Describe the progression of Duchenne muscular dystrophy.
Definition
Infant - hypotonia and failure to thrive
Age 5 - gait abnormalities
Age 12 - Wheelchair
Age 18 - Median age of death
Term
What is the MC COD for pts with duchenne muscular dystrophy?
Definition
Poor Pulmonary function
Term
What is the MC sx of female carriers of Duchenne muscular dystrophy?
Definition
Cardiac Abnormalities - Dilated cardiomyopathy and EKG changes
Term
If just the mother is a carrier of Duschenne, what chance does the son have of being affected? What chance does the daughter have of being affected?
Definition
each son has a 50% risk of DMD and each daughter has a 50% risk of being a carrier
Term
What gene mutations cause Hemophilia A and B?
Definition
mutations of F8 and F9 genes
Term
What does a mutation in F8 gene cause?
Definition
deficiency/dysfunction of clotting factor VIII
Term
What does a mutation in F9 gene cause?
Definition
deficiency/dysfunction of clotting factor IX
Term
Which is MC Hemophilia A or B?
Definition
Hemophilia A
Term
What genetic disease is characterized by bleeding into soft tissues, muscles, and weight bearing joints after even mild trauma and may continue to for days?
Definition
Hemophilia
Term
What genetic condition is described as a mental retardation disorder caused by a mutation with a triple repeat expansion?
Definition
Fragile X-syndrome
Term
What type of inheritance controls fragile-X?
Definition
X-linked recessive
Term
Which genetic condition has an onset in childhood with mental deficiencies and dysmorphic facies and accounts for about 5% of mental retardation in males?
Definition
Fragile-X
Term
Which type of inheritance controls Rett Syndrome?
Definition
X-linked dominant
Term
Which sex is mostly affected by Rett Syndrome?
Definition
Females
Term
What genetic condition is described as being characterized by rapid onset of neurological deterioration between the ages of 6-18 months, where the pt may lose any speech or motor development particularly purposeful hand movements?
Definition
Rett Syndrome
Term
What type of mutation is a major contributor to many types of CA?
Definition
Somatic mutation
Term
Which type of mutation is described as a mutation is present in some tissues of the body but not the gametes?
Definition
Somatic mosaicism
Term
Which type of mutation is described as mutation that is restricted to gamete lineage only?
Definition
Gamete mosaicism
Term
What type of mutation is the result of mutations in a single cell that is then passed on to further cell divisions?
Definition
Mosaicism
Term
What type of genetic cause is responsible for Osteogenesis Imperfecta?
Definition
Mosaicism
Term
What inheritance type is described as expression of the disease depends on whether the mutant allele was inherited from the mother or the father?
Definition
Imprinting
Term
What condiiton is characterized by marked hypotonia at birth, feeding difficulties, and hypogonadism with cryptorchidism and then during childhood, pts develop extreme hyperphagia resulting in marked obesity?
Definition
Prader Willi Syndrome
Term
What disorder is caused by a deletion of 15q11 to 15q13 from the paternal line?
Definition
Prader-Willi Syndrome
Term
What genetic condition causes distinct facial characteristics including narrow temple distance and nasal bridge, almond-shaped eyes, mild strabismus, thin upper lip, and downturned mouth?
Definition
Prader-Willi Syndrome
Term
What genetic syndrome is described as having clinical signs including feeding and developmental problems, seizures at 2 - 3 y/o, impaired speech, hyperactivity, microcephaly, sleep disorders, movement and balance disorders?
Definition
Angelman syndrome
Term
What syndrome is described as an absence of a functional maternal UBE3A gene?
Definition
Angelman Syndrome
Term
What genetic disease is described as short stature, obesity, round face, subcutaneous ossifications, and shortening and widening bones?
Definition
Albright heredity
Term
What condition is characterized by parathyroid hormone resistance (PHPT); thyroid stimulating hormone resistance?
Definition
Albright Heredity
Term
Which condition is caused by a mutation in the GNAS1 gene?
Definition
Albright Heredity
Term
What is the treatment for Albright heredity?
Definition
Ca and Vit D
Term
With which family members is a disease that is inherited through common inheritance more commonly seen?
Definition
more common amongst close relatives than distant relatives who share fewer common alleles
Term
Even though a pt with a parent who is heterozygous for the factor V Leiden mutation has a 50% chance of inheriting the mutant allele, what percent life time risk does that child have of developing a DVT? WHY?
Definition
5% - Low penetrance and environmental factors
Term
If a pt with a parent who is heterozygous for the Protein C deficiency mutation has a 50% chance of inheriting the mutant allele, what percent life time risk does that child have of developing a DVT? WHY?
Definition
10 - 30% lifetime risk; High penetrance and environmental factors
Term
When should factor V leiden deficiency be tested for?
Definition
- Thrombosis in a pt younger than 50y/o or with a relative who has had this
- Thrombosis in hepatic, mesentaric or cerebral veins
- Recurrent thrombosis
- In prego pt or ones on OCs
- MI in female smoker <50
Term
Which type of DM is described as autoimmune destruction of pancreatic islet beta cells? How common is it?
Definition
DM Type 1; 10% of DM cases
Term
Which type of DM is described as insulin deficiency and insulin resistance? How common is it?
Definition
DM Type 2 - 90% of DM cases
Term
Which chromosome is affected in type 1 DM?
Definition
Chromosome 6
Term
Which type of DM has stronger genetic inheritance and is polygenic?
Definition
Type 2
Term
What will the majority of diabetics die from?
Definition
will die from vascular disease – MI, CVA, ESRD, or gangrene of lower extremities
Term
How can the pt modify the genetic component of CAD?
Definition
Eat a Healthy diet – low fat, fruits & vegetables
Regular exercise
Quit Smoking
Avoiding obesity
Term
What are the components of metabolic syndrome?
Definition
Insulin resistance
Dyslipidemia
HTN
Term
In which sex is Hirschsprung dz MC?
Definition
MC in males
Term
What genetic condition is described as congenital absence of parasympathetic ganglion cells in the colon?
Definition
Hirschsprung Dz
Term
An infant presents with constipation, abdominal distention and vomiting, what genetic condition is characterized by this?
Definition
Hirschsprung Dz
Term
What is the MC cause of dementia?
Definition
Alzheimer's dz
Term
What disease is characterized by beta-amyloid plaques, neurofibrillary tangles and cortical atrophy?
Definition
Alzheimer's
Term
What condition is caused by mutated genes on chromosome 19 involving the apolipoprotein E locus (APOE)?
Definition
Alzheimer's
Term
Risk of bipolar d/o if child of two bipolar parents?
Definition
70%
Term
Risk of bipolar d/o if child of one bipolar parent?
Definition
27%
Term
Risk of bipolar d/o if sibling?
Definition
30%
Term
Risk of bipolar d/o if 2nd degree relative?
Definition
5%
Term
Risk of schizophrenia if Child of 2 schizophrenic parents?
Definition
46%
Term
Risk of schizophrenia if Child on one schizophrenic parent?
Definition
16%
Term
Risk of schizophrenia if sibling?
Definition
14%
Term
Risk of schizophrenia if nephew or niece?
Definition
4%
Term
Risk of schizophrenia if first cousin?
Definition
6%
Term
Risk of schizophrenia if grandchild?
Definition
8%
Term
Which is more severe, Bipolar I or II?
Definition
Bipolar 1
Term
Which phase of bipolar disorder is described as euphoria, extreme optimism , inflated self-esteem, poor judgment , rapid speech, racing thoughts , aggression, agitation, and risk taking?
Definition
Manic Phase
Term
Which phase of bipolar disorder is described as sadness, hopelessness, suicidal thoughts or behavior , anxiety, and guilt?
Definition
Depressive phase
Term
Which sex is mostly affected by neural tube defects?
Definition
female
Term
Which condition is described as the forebrain, meninges, vault of the skull and the overlying skin are absent?
Definition
Anencephaly
Term
Which type of neural tube defect is described as failure of fusion of the arches of the vertebrae in the lumbar region?
Definition
Spina bifida
Term
Which type of spina bifida is described as only a defect in the bone?
Definition
Spina bifida occulta
Term
Which type of spina bifida is described as defect includes a meningocele (protrusion of meninges) or meningomyelocele (protrusion of meninges and neural tissue)?
Definition
Spina bifida aperta
Term
What is a major factor in reducing the incidence of neural tube defects?
Definition
folic acid
Term
What environmental factors can lead to congenital heart defects?
Definition
Teratogens
Maternal rubella infection
Maternal diabetes
Term
What are the MC types of congenital heart defects?
Definition
flow lesions
Term
An infant presents with irritability, pale skin, sweating, heavy or rapid breathing, poor feeding and poor weight gain. What condition do you suspect?
Definition
Coarctation of the aorta
Term
What does survival with hypoplastic left heart syndrome depend on?
Definition
depends on connections btwn the R and L side of the heart
Term
In which sex is hypoplastic L heart MC?
Definition
Males
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