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
|
|
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
|
|
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
|
|
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
|
|
Term
| In which type of population is Tay-sachs dz most prevalent? |
|
Definition
|
|
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
|
|
Term
| How is hemochromatosis inherited (what type of inheritance)? |
|
Definition
|
|
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
|
|
Term
| What genetic condition is described as progressive pulmonary disease, pancreatic insufficiency, decreased male fertility, failure to thrive? |
|
Definition
|
|
Term
| What type of inheritance controls cystic fibrosis? |
|
Definition
|
|
Term
| What gene is mutated in cystic fibrosis? |
|
Definition
|
|
Term
| What genetic disorder is described as a disorder of epithelial ion transport caused by mutations? |
|
Definition
|
|
Term
| If both parents are carriers of the cystic fibrosis gene, what are the chances of any of the children having Cystic Fibrosis? |
|
Definition
|
|
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
|
|
Term
| Which disorder is a disease of lysosomal storage? |
|
Definition
|
|
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
|
|
Term
| What type of inheritance controls Tay-Sachs disease? |
|
Definition
|
|
Term
| What type of inheritance is Xeroderma pigmentosum? |
|
Definition
|
|
Term
| Which type of genetic inheritance type appears in EVERY generation, and can affect males and females equally? |
|
Definition
|
|
Term
| If a parent has an autosomal dominant trait, what is the chance that any of their children can inherit it? |
|
Definition
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
Term
| What is different about the inheritance of Neurofibromatosis? |
|
Definition
|
|
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
|
|
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
|
|
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
|
|
Term
| What d/o is described as skeletal disorder causing short limbed dwarfism and a large head, and Normal intelligence? |
|
Definition
|
|
Term
| Do Achondroplasia dwarfs have normal intelligence? |
|
Definition
|
|
Term
| Which type of Achondroplasia dwarfs are much more severely affected, often not even surviving the postnatal period? |
|
Definition
|
|
Term
| Approximately how many genes are on the X chromosome? How much of them are presently known to be disease phenotypes? |
|
Definition
|
|
Term
| In X-linked recessive, who is MC affected, males or females? |
|
Definition
|
|
Term
| Are X-linked recessive genes passed from father to son? |
|
Definition
|
|
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
|
|
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
|
|
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
|
|
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
|
|
Term
| What genetic condition is described as a mental retardation disorder caused by a mutation with a triple repeat expansion? |
|
Definition
|
|
Term
| What type of inheritance controls fragile-X? |
|
Definition
|
|
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
|
|
Term
| Which type of inheritance controls Rett Syndrome? |
|
Definition
|
|
Term
| Which sex is mostly affected by Rett Syndrome? |
|
Definition
|
|
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
|
|
Term
| What type of mutation is a major contributor to many types of CA? |
|
Definition
|
|
Term
| Which type of mutation is described as a mutation is present in some tissues of the body but not the gametes? |
|
Definition
|
|
Term
| Which type of mutation is described as mutation that is restricted to gamete lineage only? |
|
Definition
|
|
Term
| What type of mutation is the result of mutations in a single cell that is then passed on to further cell divisions? |
|
Definition
|
|
Term
| What type of genetic cause is responsible for Osteogenesis Imperfecta? |
|
Definition
|
|
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
|
|
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
|
|
Term
| What disorder is caused by a deletion of 15q11 to 15q13 from the paternal line? |
|
Definition
|
|
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
|
|
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
|
|
Term
| What syndrome is described as an absence of a functional maternal UBE3A gene? |
|
Definition
|
|
Term
| What genetic disease is described as short stature, obesity, round face, subcutaneous ossifications, and shortening and widening bones? |
|
Definition
|
|
Term
| What condition is characterized by parathyroid hormone resistance (PHPT); thyroid stimulating hormone resistance? |
|
Definition
|
|
Term
| Which condition is caused by a mutation in the GNAS1 gene? |
|
Definition
|
|
Term
| What is the treatment for Albright heredity? |
|
Definition
|
|
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
|
|
Term
| Which type of DM has stronger genetic inheritance and is polygenic? |
|
Definition
|
|
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
|
|
Term
| What genetic condition is described as congenital absence of parasympathetic ganglion cells in the colon? |
|
Definition
|
|
Term
| An infant presents with constipation, abdominal distention and vomiting, what genetic condition is characterized by this? |
|
Definition
|
|
Term
| What is the MC cause of dementia? |
|
Definition
|
|
Term
| What disease is characterized by beta-amyloid plaques, neurofibrillary tangles and cortical atrophy? |
|
Definition
|
|
Term
| What condition is caused by mutated genes on chromosome 19 involving the apolipoprotein E locus (APOE)? |
|
Definition
|
|
Term
| Risk of bipolar d/o if child of two bipolar parents? |
|
Definition
|
|
Term
| Risk of bipolar d/o if child of one bipolar parent? |
|
Definition
|
|
Term
| Risk of bipolar d/o if sibling? |
|
Definition
|
|
Term
| Risk of bipolar d/o if 2nd degree relative? |
|
Definition
|
|
Term
| Risk of schizophrenia if Child of 2 schizophrenic parents? |
|
Definition
|
|
Term
| Risk of schizophrenia if Child on one schizophrenic parent? |
|
Definition
|
|
Term
| Risk of schizophrenia if sibling? |
|
Definition
|
|
Term
| Risk of schizophrenia if nephew or niece? |
|
Definition
|
|
Term
| Risk of schizophrenia if first cousin? |
|
Definition
|
|
Term
| Risk of schizophrenia if grandchild? |
|
Definition
|
|
Term
| Which is more severe, Bipolar I or II? |
|
Definition
|
|
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
|
|
Term
| Which phase of bipolar disorder is described as sadness, hopelessness, suicidal thoughts or behavior , anxiety, and guilt? |
|
Definition
|
|
Term
| Which sex is mostly affected by neural tube defects? |
|
Definition
|
|
Term
| Which condition is described as the forebrain, meninges, vault of the skull and the overlying skin are absent? |
|
Definition
|
|
Term
| Which type of neural tube defect is described as failure of fusion of the arches of the vertebrae in the lumbar region? |
|
Definition
|
|
Term
| Which type of spina bifida is described as only a defect in the bone? |
|
Definition
|
|
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
|
|
Term
| What is a major factor in reducing the incidence of neural tube defects? |
|
Definition
|
|
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
|
|
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
|
|
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
|
|
