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Genetic, developmental, nutritional, and environmental disease (Pediatric Diseases)

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buccal DNA smear

**An otherwise healthy 17-year-old girl is the shortest person among her high school classmates such that her height and weight are at the 50th percentile. She has also failed to develop secondary sex characteristics. Which of the following clinical assessments should be performed to identify her condition? A. Analysis of chloride levels in sweat B. Buccal DNA smear C. Chromosomal PCR assay D. Morphological examination of lysosomal structure

hypertrophy of adipocytes

**The lifestyle patterns of healthy university students aged 18-21 years are studied. A subset of these students is characterized by consumption of a lot of fast food hamburgers and very little physical exercise. Which of the following tissue changes would be most evident in this subset of study participants? A. Apoptosis of the myocardium B. Hypertrophy of adipoctyes C. Metaplasia of skeletal muscle to adipose tissue D. Pancreatic fat necrosis

undernutrition

Approx 45% of deaths among children <5 yrs linked to ___

300

Approx ___ children treated daily US for accidental poisoning

all locations above

CFTR channels are typically found in: lumen of sweat ducts airway GI tracts neither more than one answer all locations above

hyperglycemia

Diabetes is complex of diseases that share ___ (high blood sugar) as common feature

cataracts this can lead to retinal detachment in microvascular disease

Hyperglycemia alters polyol pathway (in tissues that don't use glucose as primary energy source) predisposing to ___

surfactant

Immature lungs cannot produce normal ___, resulting neonatal respiratory distress syndrome

intraventricular

Immaturity of fragile brain vasculature can cause massive ___ hemorrhage

Rh incompatibility

Immune Fetal Hydrops resulting from ___ incompatibility with mother causing antibody-induced hemolytic anemia Fetal D-antigen crosses into maternal circulation - mother produces hemolytic antibodies that cross placenta

reticulocyte

Increased peripheral destruction of blood cells stimulates egress of immature erythroid cells into circulation so ___ count is measure of proliferative stress on erythroid bone marrow

parathyroid hormone memorize slide 66 lecture 1

Low serum Ca & P levels stimulate secretion of ___ to activate 1-hydroxylase

clatherin

Normally, LDL taken up into cells by receptor-mediated ___ -coated pits

capillary beds

RBCs sickle in and obstruct ___ ___

false they are non-medelian

T/F chromosome abnormalities are mendelian (hereditary) disorders

true in the case study with the patient who has DMD, we can see that a hairline fracture could release tons of fat from the bone into circulation and cause severe fat embolism syndrome at different parts of the body

T/F majority of long bone fractures result in fat embolism, but often appear to go unnoticed especially in children

false normal life expectancy with appropriate care

T/F patients with fragile X often see shortened life expectancies

true this is because we can still get tyrosine from our diet

T/F phenylketonurics have a normal life expectancy when they are closely tied to phenylalanine dietary restrictions

true

T/F tay-sachs is a form of lysosomal storage disease and thus, individuals are incapable of degrading some types of macromolecules that accumulate in lysosomes

true

T/F the majority of infant deaths (<1yr) due to developmental anomalies, complications of pregnancy, infection; whereas majority of childhood deaths (>1yr) occur due to accidents

false there are no inherited Y-linked disorders known to date

T/F the other two types of mendelian disorders are X-linked and Y-linked

25-hydroxylase, 1-hydroxylase

UV stimulates conversion of vitamin D precursor in skin via liver ___ to 25-OH-D which is further processed to active from of 1,25 di-hydroxy D in kidney by ___ 1-hydroxylase, 25-hydroxylase 25-hydroxylase, 1-hydroxylase

rickets, osteomalacia (softening of the bones)

Vitamin D deficiency in children affects long bones producing ___ whereas in adults this produces ___ which disrupts normal bone remodeling

B,C

Water soluble vitamins are:

Protein-energy malnutrition (PEM)

___ ___ ___ is functionally characterized as loss of skeletal proteins (muscle) of the somatic component and protein stores (liver) of the visceral component

hydrops fetalis

___ ___ is generalized edema that is fatal, less severe forms involve peritoneal and pleural edema Edema results from cardiovascular anomaly, chromosomal, thoracic, infectious & immune events

down syndrome

___ ___ occurs in 1:1000 live births (in mothers less than 20 years old) and results from trisomy 21. *it is the most common chromosomal disorder*

mutations

___ arise from alterations in DNA sequence

Epigenetic

___ changes modulate expression without altering DNA sequence includes post-translational modification and gene silencing by microRNAs (miRNA) influence gene expression

Excess

___ cholesterol inhibits production of LDL receptor and HMG to reduce LDL uptake & metabolism

type II, type I

___ diabetes: resistance to action of insulin (80-90%) ___ diabetes: deficient secretion of insulin by beta cells (10%)

multifactorial/polygenic

___ disorders result from changes in many genes by chromosomal deletions, duplications, inversions, insertions and translocations

malnutrition

___ includes undernutrition (wasting, stunting, under/overweight), inadequate vitamins or minerals, overweight, obesity

Anemia

___ is the diminished oxygen-carrying capacity in blood secondary to a decrease in number of erythrocytes and/or amount of hemoglobin clinically, ___ presents as fatigue & pallor - organ failure, shock

tobacco there are about more than 2000 carcinogens in cigarettes

___ is the most common cause of cancer from exogenous material

RBC hematocrit MCV Fe

___ number = 4.2-5.6 (males) 3.8-5 (females) x106/ul blood Normal ___ (packed red cell volume) is 38-48% (males) & 35-44% (females) __ is measured in femtoliters - 81-100 fl, RDW is normally < 15% __ body mass: 2.5g females, 3.5g males, 80% in Hgb Normal Hgb is 13 (males) & 12 (females) g/dL

hemophilia

___ results from deficiency of clotting factors and is represented by a group of bleeding disorders

turner syndrome

a baby at birth is seen to experience retarded growth, webbing of the neck, cubitus valgus (wide arm angle), broad chest with widely spaced nipples. what disorder is this?

kwashiorkor

a child comes into the clinic with apathy, listlessness, and loss of appetite. after blood tests, a significant deficiency of protein is observed. what could this child have? kwashiorkor vitamin D deficiency marasmus rickets & osteomalacia

marasmus

a child comes into the clinic with diarrhea, low pulse/BP/body temperature, and a low body weight. after blood tests, a deficiency of all dietary components are experienced. what could this child have? kwashiorkor vitamin D deficiency marasmus rickets & osteomalacia

lead they will show lead lines and increased bone density upon further examination. this accumulation will also interfere with normal bone remodeling

a child mistakenly drinks some old paint. X-rays reveal accumulation of a substance in the bone and teeth, nervous system, and kidneys. it tends to act like calcium and replace it and bind with phosphate, interfere with heme synthesis, and thus promoting anemia and significant neuropathies. what poisoning could this child have? iron magnesium lead cadmium mercury

X-linked dominant, hydroxylated vitamin D note: *hypophosphatemia* is uncommon

a child presents with rickets. upon further genetic examination, the patient has a defective PHEX gene and has shown to impair phosphate transport across the luminal membrane of the proximal renal tubular cells. which of the following categories does this disease fall into and what is it now treated with? X-linked recessive, hydroxylated vitamin D X-linked recessive, alkylated vitamin A X-linked dominant, hydroxylated vitamin D X-linked dominant, alkylated vitamin A

hyperplasia

a patient presents with enlargement of axillary lymph nodes demonstrating ___ with microabscess formation. you suspect it to be bartonella from cat scratch lymphadenitis since the child has a cat at home as a pet. atrophy hyperplasia hypertrophy metaplasia

edema

abnormal accumulation of fluid

both

all children born in the US are screened for: cystic fibrosis phenylketonuria both neither

all of the above

anemia can be caused by which of the following modes? inherited acquired infectious more than one answer all of the above

hemarthrosis

bleeding within joint spaces

embolus

blood clot or air bubble or fat globule

bartonella henselae

cat scratch lymphadenitis is spread by which bacteria?

immunocompromised

cat scratch lymphadenitis usually occurs in children or ___ patients

de novo

chromosomal disorders arise ___ ___

perinatal diseases

class of diseases that arise due to congenital anomalies and are a result of complications of prematurity or infection

all factors

detal retardation arises from: fetal factors placental factors maternal factors more than one answer all factors

10%

diabetes affects almost __% of the US population 5 10 20 25 50

more than one answer less than 20 and over 35

during what maternal birth age does trisomy/down syndrome likelihood increase? less than 20 20-30 30-35 over 35 more than one answer

penetrance

extent of mendelian diseases depend on ___ of the mutation

ADEK

fat soluble vitamins are:

males (1:155 males) note: not females bc it is (1:8000)

fragile X chromosomal disorder is linked more with: males females both neither

klinefelter this is the accumulation of male breast tissue and thus elicits 20X more likelihood of patient to develop male breast cancer and germ cell tumors

gynecomastia is seen in which of the following syndromes? turner fragile X edwards hunters klinefelter

elderly

hyperosmolar nonketotic comas in type II diabetics usually occurs in what demographic? women children minorities african americans elderly

kidney

in diabetes mellitus, which of the following will be chronically deteriorated and yield end-stage disease if left untreated? pancreas spleen kidney liver heart

1-4

in what age group are burns in children the most likely? 1-4 5-8 9-14 15-17

subluxation

individuals with marfan's are described to have double-jointed and potentially bilateral ocular dislocation of the lens, which is properly termed ___

frameshift

insertions or deletions will result in which of the following types of mutations? silent missense nonsense frameshift

life expectancy of DMD is __ years

cystic fibrosis huntington's cat scratch lymphadenitis fat embolism syndrome turner syndrome duchenne muscular dystrophy lysosomal storage disease

match the following diseases to their diagnosis functional testing of chloride levels in their sweat direct sequence analysis seropositive antibodies and histological presentation petechial rash and respiratory problems after long bone injury buccal DNA smear chromosomal PCR assay morphological examination of lysosomal structure

single, germline

mendelian disorders result from alterations in ___ genes and therefore inherited through the ___

fat embolism syndrome

multi-organ dysfunction due to deposition of fat emboli within vascular supply of different organs causing microinfarcts

120 days

normal erythrocyte life span is ___

embolism

obstruction of arterial vessel by blood clot or air bubble

fat embolism

obstruction of arterial vessel by fat macroglobules following release of fat from marrow of fractured long bones, occurs 12-36 hrs after fracture, 10-20% fatal

emphysema

smoking promotes ___: COPD asthma emphysema ARDS

meconium ileus

term used to describe fecal congestion in the ileum

osteomalacia

term used to describe softening of the bone (as seen in hypophosphatemia)

flat facial profile oblique palprebral fissures (upslanting opening between upper and lower eyelid) prominent epicanthic eye folds dysplastic ears congenital heart disease megacolon protruding, big/wrinkled tongue acute lymphoblastic leukemia wide gap between 1st/2nd toes some degree of mental retardation

what are some clinical features seen at birth in diagnosing down syndrome?

small stature webbed neck *coarctation*/narrowing of the aorta poor breast development widely spaced nipples wide carrying angle of the arms (*cubitus valgus*) primary amenorrhea multiple pigmented nevi female hypogonadism (rudimentary ovaries-gonadal streak) lymphedema of extremities risk for goiters/autoimmune thyroiditis

what are some clinical features seen at birth in diagnosing turner's syndrome?

1 of these: *respiratory symptoms petechial rash cerebral involvement* ------------------- 4 minor features: retinal changes jaundice renal dysfunction thrombocytopenia anemia increased erythrocyte sedimentation rate pyrexia (increased body temp, fever) tachycardia tachypnea ----------------- *fat macroglobulinemia*

what are some clinical symptoms of fat embolism?

what chromosome is where sickle cell anemia mutations occur, specifically coding for the beta chain of hemoglobin?

coarctation

what clinical sign in turner's syndrome refers to the narrowing of the aorta experienced?

cubitus valgus

what clinical sign in turner's syndrome refers to the wide arm angle experienced?

torch syndrome

what condition occurs as a result of maternal infection resulting in a spontaneous abortion or in abnormalities in the fetus?

anencephaly cerebral hemispheres are absent or greatly reduced

what congenital anomaly results from the failure of the neural tubes to close?

toxoplasma other microbes (syphilis/TB/varicella-zoster) rubella cytomegalovirus herpesvirus

what does the acronym TORCH mean in torch syndrome?

phenylalanine hydroxylase (PAH) this converts phenylalanine to tyrosine

what enzyme is deficient in phenylketonuria?

asthma

what is the most common chronic condition among children?

lung

what is the most preventable form of cancer? heart liver lung pancreatic colon

down>edwards>patau

what is the relative order of commonality of acquiring down syndrome, edwards syndrome, and patau syndrome (starting with the most to least common)? patau>edwards>down patau>down>edwards down>patau>edwards down>edwards>patau

FMR1 note: FBN1 is marfan

what protein is defective in fragile X syndrome? FMR1 FMR2 FBN1 FBN2

islets of langerhans

where are insulin, glucagon, and somatostatin produced in the pancreas?

hyperplastic nodules

which of the following accumulates due to alcoholism and causes liver cirrhosis? fat mallory bodies necrotic tissue hyperplastic nodules

mallory bodies

which of the following accumulates due to alcoholism and causes liver hepatitis (inflammation of hepatocytes)? fat mallory bodies necrotic tissue hyperplastic nodules

fat

which of the following accumulates due to alcoholism and causes liver steatosis? fat mallory bodies necrotic tissue hyperplastic nodules

autosomal recessive examples: phenylketonuria, tay-sachs, Hurler's, etc

which of the following are often exemplified by enzymatic defects in metabolism and storage? autosomal dominant autosomal recessive X-linked recessive X-linked dominant

chromosomal abnormalities & structural abnormalities

which of the following causes nonimmune fetal hydrops? Rh incompatibility fetal D-antigen transmigration into maternal circulation chromosomal abnormalities structural abnormalities more than one answer

autosomal-recessive

which of the following comprise of the largest group of mendelian disorders? autosomal dominant autosomal recessive X-linked recessive X-linked dominant

hereditary spherocytosis

which of the following conditions is associated with mutations in spectrin-associated proteins, or ankyrins? tay-sachs hereditary spherocytosis familial hypercholestermia marfan's

fragile X

which of the following disorders is associated with tremor-ataxia? turner klinefelter patau hypophosphatemia fragile X

fragile X

which of the following disorders occurs due to too many CGG repeats? hurler's turner down huntington fragile X

decreased RBC production this is actually increased bc it compensates for hemolytic anemia

which of the following does NOT manifest in sickle cell anemia? decreased RBC production ischemic microinfarcts and pain crisis obstruction of capillary beds predisposition to bacterial osteomyelitis, particularly Salmonella hydroxyurea may be a suitable pharmacological therapy along with blood transfusions

atrophy of bronchial glands & smooth muscle contributes to irreversible airway constriction *hypertrophy/hyperplasia

which of the following does NOT occur in asthma? it is the most common chronic condition among children subendothelial thickening by fibrosis occurs in the airway atrophy of bronchial glands & smooth muscle contributes to irreversible airway constriction can be caused by the common cold or air pollutants such as smoke goblet cell metaplasia occurs

second degree

which of the following heals by replacement from dermal component by CT repair? first degree burn second degree burn third/fourth degree burn

none of the above are false

which of the following is FALSE regarding hurler's disease? deficient in MPS related lysosomal enzymes, alpha-L-iduronidase to be specific mesenchymal cells preferentially affected it is a MPS type 1 disease skin and musculoskeletal system most severely affected abnormalities of cardiac myocytes predisposing to myocardial infarction none of the above are false

it is a MPS type 2 disease not to be confused with hunter's

which of the following is FALSE regarding hurler's disease? deficient in MPS related lysosomal enzymes, alpha-L-iduronidase to be specific mesenchymal cells preferentially affected it is a MPS type 2 disease skin and musculoskeletal system most severely affected none of the above are false

therapeutic treatment with oxygen ventilation, artificial surfactant and corticosteroid therapy en vivo *in utero

which of the following is FALSE regarding respiratory distress syndrome in premature infants? it is common defined as the inability to produce surfactant hyaline deposition occurs in alveolar space due to lack of surfactant therapeutic treatment with oxygen ventilation, artificial surfactant and corticosteroid therapy en vivo complications of RDS therapy include retinopathy and bronchopulmonary dysplasia

linked to increased maternal age this is the one non-mendelian disorder that DOES NOT correlate w maternal age. klinefelters and down syndrome/trisomies are associated with increased maternal age

which of the following is FALSE regarding turner syndrome? hypogonadism from partial or complete loss of one of the X chromosomes accelerated oocyte loss occurs lymphedema is common linked to increased maternal age none of the above

bone mineralization this is promoted by vitamin D

which of the following is NOT a consequence of vitamin D deficiency? rickets (children) osteomalacia bone mineralization softening of bones (adults) muscle tetany

familial hypercholesterolemia this is autosomal dominant

which of the following is NOT an example of an autosomal recessive disorder? hurler's tay-sachs familial hypercholesterolemia sickle cell anemia cystic fibrosis all of the above are autosomal recessive

all of the above are autosomal recessive

which of the following is NOT an example of an autosomal recessive disorder? hurler's tay-sachs phenylketonuria sickle cell anemia cystic fibrosis all of the above are autosomal recessive

concurrent anemia - this is marasmus

which of the following is NOT analogous to kwashiorkor? hyperpigmentation of the skin concurrent anemia hepatomagely hypoalbuminemia desquamation of the skin

chlorinated mucus lack of the chloride channels will disable chloride diffusion into the mucus; therefore, sodium will flow back into the cells to compensate for the lackof these receptors and the water will follow, thus causing dehydrated mucus in the airway

which of the following is NOT found in cystic fibrosis? dehydrated mucus in airway elevated sodium in lumen sweat duct chlorinated mucus in airway reduced chloride channels more than one answer

additional copies of amyloid precursor protein gene seen on chromosome 18 *chromosome 21 - c18 is for edwards syndrome

which of the following is NOT specific to down syndrome? increased risk for myeloid leukemia (i.e. ALL) increased frequency of cardiac defects/cardiovascular disease additional copies of BCR gene on chromosome 22 that leads to ALL early onset alzheimer's risk additional copies of amyloid precursor protein gene seen on chromosome 18

associated with efflux of extracellular calcium *influx*; notes: DMD triggers *pseudohypertrophic appearance* and *hypercontraction* of muscle fibers and causes frequent injury where degeneration ultimately outpaces repair, in which we see: -> fibroblasts -> lots of collagen compared to normal -> adipocytes

which of the following is NOT true regarding DMD? moderately common among males identified by PCR associated with efflux of extracellular calcium disrupts transmembrane protein complex altered dystrophin protein fails to tether contractile sarcolemma to membrane and its ECM

incidence is rare incidence is *moderate*, with 1:5000 live births

which of the following is NOT true regarding Marfan's syndrome? point mutations occur in glycoprotein fibrillin 1 gene (FBN1), specifically elastin fiber deposition is significantly reduced risk for aortic dissection due to stiff vessels elevated TGF-b present in microenvironment and thus bone overgrowth occurs, resulting in scaphoid chest and elongated fingers (arachnodactyly) incidence is rare all of the above are true

all of the above are true

defined as the congenital absence of cranial vault - this is anencephaly note: hydrocephaly results in expansion of cranium by open suture lines in response to fluid pressure

which of the following is NOT true regarding hydrocephalus? dilation of the ventricular system owing to increased cerebrospinal fluid produced by choroid plexus increased pressure promotes atrophy of white and grey matter defined as the congenital absence of cranial vault may cause seizures, optic atrophy high mortality if not treated, can have relatively normal life expectancy if treated (shunt)

duchenne muscular dystrophy

which of the following is X-linked recessive? familial hypercholestermia sickle cell anemia duchenne muscular dystrophy hypophosphatemia

all of the above

which of the following is a long term consequence of diabetes? glycosylation of proteins in multiple organs peripheral neuropathies and potential for microvascular disease thickening of glomerular basement membrane accelerated atherosclerosis lower extremity ischemia all of the above

howell-jolly body

which of the following is associated with blood smear findings conclusive of hereditary spherocytosis? cellular gangliosides lack of LDL receptors howell-jolly bodies defective FBN1 TGF-b

male hypogonadism with XXY trisomy

which of the following is characteristic of klinefelter syndrome? increased risk for myeloid leukemia mosaicism of X chromosome in female due to barr body inactivation prominent epicanthic eye folds seen patients can be treated with vitamin D male hypogonadism with XXY trisomy

mosaicism of X chromosome in female due to barr body inactivation

which of the following is characteristic of turner syndrome? increased risk for myeloid leukemia mosaicism of X chromosome in female due to barr body inactivation prominent epicanthic eye folds seen patients can be treated with vitamin D male hypogonadism with XXY trisomy

third/fourth degree burn

which of the following is destruction of the epidermis & dermis preventing re-epithelialization? first degree burn second degree burn third/fourth degree burn

caused by single point mutation in one allele *both alleles

which of the following is false regarding autosomal recessive mendelian disorders? equal susceptibility between males & females yield a 25% risk among siblings caused by single point mutation in one allele occurs frequently in inbred populations recessive diseases frequently "skip" generations

male hypogonadism clinically, fragile X actually has large testicles (macroorchidism), large mandibles, and large everted ears

which of the following is false regarding fragile X syndrome? defective protein results in improper neuronal/synaptic development it is the second most common cause of mental retardation behind down syndrome tremor-ataxia is present, and could lead to parkinson's results from large number of copies of CGG repeats male hypogonadism

Due to defect in beta-subunit of hexosaminidase A

which of the following is false regarding tay-sachs? Accumulation of cellular gangliosides Due to defect in alpha-subunit of hexosaminidase A Due to defect in beta-subunit of hexosaminidase A Clinically manifests in brain and can be catastrophic in infants Common among Ashkenazi Jews

Mutated lysosome enzymes result in lack of MPS metabolism this is hurler's

which of the following is false regarding tay-sachs? Due to defect in alpha-subunit of hexosaminidase A Clinically manifests in brain and can be catastrophic in infants Mutated lysosome enzymes result in lack of MPS metabolism Common among Ashkenazi Jews All of the above are true

recognized as blisters with separation of epidermis and dermis

which of the following is false regarding third/fourth degree burns? cell and tissue structure is lost heal occurs by scarring recognized as blisters with separation of epidermis and dermis may require skin grafting likelihood of shock ensues all the above are true

fibrosis is usually present *not

which of the following is false regarding tobacco use? smoking increases risk for myocardial infarction smoking increases risk for artherosclerosis in adults secondhand smoke exposure causes acute lower respiratory infections such as bronchitis and pneumonia in infants and young children fibrosis is usually present all of the above are true

all of the above

which of the following is found in cystic fibrosis as a clinical sign? babies taste "salty" meconium ileus pancreatic insufficiency cardiopulmonary complications predisposition to bacterial infections and therefore chronic inflammation all of the above

acetaldehyde too much ethanol will drive formation of acetaldehyde, which will lead to generation of free radicals

which of the following is increased in FAS? CYP2E1 ethanol NADP+ NAD+ acetaldehyde

more than one answer bacterial infection & herpesvirus infection

which of the following is indicative of torch syndrome but when acquired transcervically (ascending)? bacterial infection herpesvirus infection embryonic inhalation/ingestion more than one answer

embryonic inhalation/ingestion

which of the following is indicative of torch syndrome but when acquired transplacentally (hematologically)? bacterial infection herpesvirus infection embryonic inhalation/ingestion more than one answer

amyloid deposits replace pancreatic islets

which of the following is likely NOT associated with diabetes mellitus type 1? hypoinsulinemia due to autoimmune reaction to b-cells hyperglycemia ketoacidosis amyloid deposits replace pancreatic islets dehydration due to severe glycosuria and osmotic diuresis

elevated triglycerides this is type 2 diabetes mellitus

which of the following is likely NOT associated with diabetes mellitus type 1? hypoinsulinemia due to autoimmune reaction to b-cells hyperglycemia ketoacidosis elevated triglycerides dehydration due to severe glycosuria and osmotic diuresis more than one answer

more than one answer hypoinsulinemia & ketoacidosis note: patient will not develop ketoacidosis but there still can be hyperglycemia. also, there are high circulating levels of insulin due to the body developing chronic insulin resistance consequentially through their diet

which of the following is likely NOT associated with diabetes mellitus type 2? elevated triglycerides and thus IL-1b silent, prolonged hyperglycemia hypoinsulinemia ketoacidosis elevated amyloid deposits in pancreas more than one answer

cirrhosis can see increased collagen with blue staining

which of the following is liver fibrosis with conversion of normal architecture into abnormal nodules? cirrhosis steatosis hepatitis

lower extremity lower body ischemia results due to accelerated atherosclerosis from hyperglycemia. foot damage is exacerbated by *peripheral neuropathy*

which of the following is more likely prone to amputation long-term in patients with types I/II diabetes? fingers upper extremity ears lower extremity more than one answer

LDL receptor gene

which of the following is mutated in familial hypercholesteremia? chylomicrons ApoB100 LDL receptor gene fatty acid lipase

factor VIII

which of the following is mutated in hemophilia A? factor VII factor VIII factor IX factor V factor X

beta chains

which of the following is mutated in sickle cell anemia on hemoglobin S? heme group alpha chains beta chains more than one answer all of the above

autoimmune thyroiditis this is linked to turner syndrome and developing a goiter note: breast cancer has about a 20 times more chance to develop with klinefelter

which of the following is not a potential complication associated with klinefelter syndrome? breast cancer autoimmune thyroiditis germ cell tumors systemic lupus erythematosis

more than one answer reversible defects & normal life expectancy

which of the following is not true regarding fetal alcohol syndrome, FAS? reversible defects causes brain damage and growth problems low birth weight a constellation of noticeable facial features, such as small head, small eye openings, thin upper lip, *smooth philtrum* (groove between nose and upper lip) normal life expectancy more than one answer

X-linked dominant

which of the following is seen often in females with high mortality but an even greater severity of disease in affected sons? autosomal dominant autosomal recessive X-linked recessive X-linked dominant

tay-sachs this is autosomal recessive; hereditary spherocytosis can also be autosomal recessive but this is occasional and is mostly autosomal dominant

which of the following is strictly an example of autosomal recessive inheritance? marfan tay-sachs hereditary spherocytosis familial hypercholesterolemia all of the above are autosomal dominant

results from large number of copies of CGG repeats

which of the following is true regarding fragile X syndrome? increased risk for myeloid leukemia mosaicism of X chromosome in female due to barr body inactivation prominent epicanthic eye folds seen results from large number of copies of CGG repeats male hypogonadism with XXY trisomy

life span of erythrocytes reduced note: also, patients can have *episodic aplastic crises* (temporary shut down of erythropoiesis) in hereditary spherocytosis

which of the following is true regarding hereditary spherocytosis? lifespan of spherocytes reduced generally autosomal recessive, while occasionally autosomal dominant mutations result in RBCs becoming more deformable retains characteristic donut shape all of the above are true

results in severe mental retardation this alongside failure to walk/talk and often seizures

which of the following is true regarding phenylketonuria? autosomal dominant inheritance results from lack of dihdryopteridine reductase (DHPR) results in hypophenylalaninemia results in severe mental retardation found in CSF

it is relatively common 15.5 out of 1000 people, and 1:12 AAs carry the trait

which of the following is true regarding sickle cell anemia? it is autosomal dominant inherited two mutant alpha chains causes hemoglobin S formation mutation occurs at hemoglobin alpha chain gene on chromosome 12 it is relatively common more than one answer

L-iduronate sulfatase

which of the following levels is expected to be reduced in Hunter's syndrome? alpha-L-iduronidase L-iduronate sulfatase heparan sulfate dermatan sulfate more than one answer

Genetic, developmental, nutritional, and environmental disease (Pediatric Diseases)

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