Main (STUDY ME!)

During gene expression, which segments of the pre-mRNA molecule are removed?

What is the function of tRNA in the process of mRNA translation?

Which of the following sequences represents a start codon in mRNA?

During which phase of the cell cycle does DNA replication occur?

What is the ploidy of gametes produced through meiosis?

A point mutation results in a codon changing from one that codes for an amino acid to a stop codon. What type of mutation is this?

In meiosis, during which phase does crossing over occur, leading to genetic variation?

A researcher is studying a genetic disorder that is consistently passed down from mothers to all of their children, but never from fathers. Which type of genes are most likely involved in this disorder?

What is the fundamental focus of the study of genetics?

Gregor Mendel's groundbreaking experiments, which laid the foundation for modern genetics, primarily involved the study of inheritance patterns in which organism?

An individual is described as having a heterozygous genotype for a specific trait. What does this imply about their allelic composition for that trait?

Consider a scenario where the allele for purple flower color (P) is dominant over the allele for white flower color (p) in pea plants. If a pea plant has the genotype Pp, what is its phenotype?

Traits, or observable characteristics of an organism, can be determined by various factors. Which of the following is NOT a primary determinant of an organism's traits?

Thomas Hunt Morgan's experiments with fruit flies provided significant insights into genetics. What key concept did Morgan's work primarily help to establish?

Restriction enzymes are essential tools in molecular biology. What is their primary function in manipulating DNA?

The term 'centimorgan' is used in genetics as a unit of measure. What does 1 centimorgan (cM) represent?

A patient presents with short stature, a webbed neck, and is diagnosed with coarctation of the aorta. Which of the following chromosomal abnormalities is most likely associated with these findings?

Which of the following genes is primarily associated with Marfan syndrome?

A 10-year-old male is noted to have an arm span greater than his height, pectus carinatum, and significant nearsightedness. Echocardiography reveals aortic root dilation. Which condition is most likely?

Which of the following physical exam findings is NOT typically associated with Marfan syndrome?

A newborn presents with multiple fractures at birth, and radiographic imaging reveals decreased bone density. Examination shows blue sclerae. Which condition is most likely?

Which of the following is the primary management goal for individuals diagnosed with Marfan syndrome?

Which of the following is the most appropriate initial screening test for a patient suspected of having Marfan syndrome based on their physical characteristics?

A 30-year-old female with known Osteogenesis Imperfecta (OI) desires contraception. Which of the following contraceptive methods would require careful consideration due to potential interactions with bisphosphonates (used in OI management) or other OI-related complications?

Which of the following is the leading cause of sudden cardiac death in competitive athletes in the United States?

Predictive genetic testing in families with hypertrophic cardiomyopathy (HCM) and a known pathologic variant is available for which of the following purposes?

What is the inheritance pattern of most diseases discussed, with specific attention to exceptions?

Which of the following maternal conditions is associated with an increased risk of congenital heart defects in the developing fetus?

A pregnant patient with poorly controlled type 1 diabetes is at an increased risk of teratogenesis affecting the fetal central nervous system (CNS). Which of the following is the least likely CNS defect associated with maternal diabetes?

Which type of osteogenesis imperfecta is characterized by blue sclera and decreased bone density?

Which of the following is a key characteristic of Classical Ehlers-Danlos Syndrome (EDS)?

A patient presents with a history of joint instability, pain, and hyperextensible skin. Which of the following is the MOST appropriate next step in diagnosing Ehlers-Danlos Syndrome (EDS)?

Which type of Ehlers-Danlos Syndrome (EDS) is associated with the highest mortality rate due to increased risk of vascular complications and organ rupture?

Which of the following best describes the function of reverse transcriptase?

What is the primary purpose of the polymerase chain reaction (PCR)?

What is the primary genetic mechanism underlying the development of 22q11.2 deletion syndrome (DiGeorge syndrome)?

A newborn presents with palatal abnormalities, congenital heart disease (Tetralogy of Fallot), and hypocalcemia. Which of the following genetic conditions is MOST likely?

Which of the following is NOT a modification typically made to pre-mRNA in the nucleus before it is exported?

During DNA replication and condensation, what structures are formed when a chromosome consists of two identical copies joined at the centromere?

A child is diagnosed with 22q11.2 deletion syndrome. Beyond cardiac and palatal issues, which of the following specialist referrals is of HIGHEST priority due to common complications associated with this syndrome?

What is a cloning vector?

A 25-year-old pregnant woman with a known history of vascular Ehlers-Danlos syndrome (vEDS) is being closely monitored. Which of the following represents the MOST critical concern during her pregnancy?

If a cell contains 46 chromosomes arranged in 23 homologous pairs, it is described as:

A researcher is investigating a genetic disease and observes that the affected individuals have non-functional proteins due to the presence of introns in the mature mRNA. Which step in pre-mRNA processing is most likely affected?

Which of the following cellular components directly facilitates the movement of RNA molecules from the nucleus to the cytoplasm?

In the context of molecular biology, what is the functional significance of 'junk DNA' within the human genome?

Considering the central dogma of molecular biology, which of the following viral processes deviates from the conventional flow of genetic information and how?

In a female with a 47 XXX karyotype, how many Barr bodies would be expected to be present in each cell?

What is the underlying genetic mechanism that gives rise to mosaicism?

Which of the following is the most common genetic cause of Down syndrome?

A newborn is diagnosed with Down syndrome. Besides screening for congenital heart defects, which of the following conditions is this child at increased risk for developing?

Which of the following clinical findings is MOST indicative of Edwards syndrome (Trisomy 18)?

Which type of Osteogenesis Imperfecta (OI) is typically characterized by the most severe bone deformities?

What is a key differentiating feature of Patau syndrome (Trisomy 13) compared to Edwards syndrome (Trisomy 18)?

A child presents with multiple fractures at birth and is subsequently diagnosed with Osteogenesis Imperfecta. Which type of OI is MOST likely?

A 16-year-old male presents with delayed puberty, gynecomastia, and small testes. Karyotype analysis reveals a 47,XXY chromosome constitution. Which of the following hormonal imbalances is most likely contributing to these clinical findings?

Which of the following is a key feature of Classical Ehlers-Danlos Syndrome (EDS)?

A couple who are both carriers for a Robertsonian translocation involving chromosome 21 are seeking genetic counseling. What is the theoretical risk that their child will have Down syndrome due to this translocation, assuming the translocation is the only factor?

A patient presents with a history of joint instability, pain, and hyperextensible skin. What is the MOST important next step in diagnosing Ehlers-Danlos Syndrome (EDS)?

Which type of Ehlers-Danlos Syndrome (EDS) carries the highest risk of mortality?

A 25-year-old pregnant woman with known vascular Ehlers-Danlos syndrome (vEDS) is being monitored. What specific complication is of GREATEST concern during her pregnancy?

Which gene is MOST implicated in the development of 22q11.2 deletion syndrome?

A newborn presents with palatal abnormalities, congenital heart disease, and hypocalcemia. What genetic test would be MOST appropriate to confirm a suspected diagnosis of 22q11.2 deletion syndrome?

Which of the following cytogenetic analyses is LEAST likely to detect point mutations within a gene sequence?

During which phase of Polymerase Chain Reaction(PCR) are specific DNA regions amplified using primers?

Fluorescence in situ hybridization (FISH) is advantageous for rapidly detecting which type of genetic abnormality?

In chromosome microarray (CMA) analysis, a reduced signal of the test DNA (labeled in green) compared to the reference DNA (labeled in red) suggests what type of chromosomal abnormality?

Next-generation sequencing (NGS) offers a comprehensive approach to genetic analysis. What specific type of mutation can NGS detect that traditional karyotyping cannot?

Nondisjunction during meiosis is a critical event that can lead to numerical chromosomal abnormalities in offspring. During which meiotic division does nondisjunction result in the most significant departure from normal chromosome number in gametes, assuming the other meiotic division proceeds correctly?

Robertsonian translocations involve the fusion of two acrocentric chromosomes. Which of the following chromosomes are most likely to be involved in a Robertsonian translocation?

A researcher is investigating a novel gene on the X chromosome and observes varying levels of its expression in different cells of a female individual. Contrary to expectations, some cells show biallelic expression (both alleles active), while others follow the typical pattern of X-inactivation. Which epigenetic mechanism is most likely disrupted in the cells exhibiting biallelic expression?

What is the primary role of cloning vectors in genetic engineering?

Which enzyme is responsible for synthesizing DNA from an RNA template?

What is the primary application of the polymerase chain reaction (PCR)?

Approximately what percentage of the human genome consists of genes that code for proteins or functional RNAs?

What is the structure of a nucleosome?

Following DNA replication and chromosome condensation, what are the two identical copies of a chromosome called, which are joined at the centromere?

According to the central dogma of molecular biology, what is the correct flow of genetic information?

How do nitrogenous bases pair in RNA?

What would be the most likely consequence if pre-mRNA splicing mechanisms within the nucleus were to fail?

A researcher is studying a novel virus that appears to defy the central dogma of molecular biology. Under what circumstance would the replication cycle of this virus be considered a violation of the central dogma?

In pedigree analysis, which symbol represents consanguinity between two individuals?

Which of the following inheritance patterns is characterized by affected males and females in every generation, with affected fathers passing the trait to all of their daughters but not to their sons?

A female presents to a clinic concerned about a family history of a genetic disorder. Her father is affected, but her mother is unaffected. She wants to know the likelihood of her sons being affected if the disorder is X-linked dominant. Assuming she herself is unaffected, what is the probability of her sons inheriting the condition?

In which inheritance pattern would all daughters of an affected male be obligate carriers, while none of his sons would inherit the trait?

Which of the following factors would be the MOST significant challenge in obtaining an accurate family history for genetic risk assessment?

What is the most appropriate management strategy for a newborn diagnosed with cleft lip and/or palate?

A child is diagnosed with Apert syndrome. Which clinical finding is MOST characteristic of this condition?

An infant presents with disproportionately shortened limbs, frontal bossing, and trident hands. Which genetic condition is MOST likely?

A 45-year-old patient presents with xanthomas on their hands and Achilles tendon, along with a family history of early myocardial infarction. Which condition is MOST likely?

What is the underlying genetic mechanism in familial hypercholesterolemia (FH)?

A young athlete collapses during a basketball game. Examination reveals significant left ventricular hypertrophy (LVH) without a history of hypertension or other cardiac conditions. Which condition should be suspected?

What are the primary genetic variants associated with Hypertrophic Cardiomyopathy (HCM)?

Which clinical manifestation is NOT usually associated with familial hypercholesterolemia (FH)?

A 10-year-old boy is diagnosed with familial hypercholesterolemia (FH). His LDL-C levels remain elevated despite lifestyle interventions. Which genetic target is MOST directly influenced by current first-line medications used to treat FH?

Why is clefting—the presence of a cleft lip and/or palate—more common in individuals with chromosomal disorders?

A geneticist is analyzing a karyotype and observes distinct banding patterns on the chromosomes. What does the intensity of these bands primarily reflect?

Which of the following chromosomal abnormalities CANNOT be detected by karyotyping?

During polymerase chain reaction (PCR), what is the purpose of the initial denaturation step?

Which of the following is a primary advantage of fluorescence in situ hybridization (FISH) over traditional karyotyping?

In chromosome microarray (CMA) analysis, if the test DNA signal is significantly reduced compared to the reference DNA signal for a particular region, what does this indicate?

Which of the following genomic alterations can be uniquely identified by Next Generation Sequencing (NGS) but NOT by karyotyping, FISH, or CMA?

Nondisjunction during meiosis is a common cause of numerical chromosome abnormalities. Considering only viable outcomes, in which of the following scenarios is survival MOST likely?

What would be the MOSTLIKELY genetic outcome if a Robertsonian translocation occurred involving chromosomes 14 and 21, and the resulting conceptus inherited only the derivative chromosome?

Which of the following cardiovascular anomalies is commonly associated with Turner Syndrome (45,X)?

A patient presents with mitral valve prolapse, aortic dilation, and nearsightedness. Physical examination reveals an arm span greater than their height. Which genetic disorder is MOST likely?

In the United States, what condition is the MOST common cause of sudden cardiac death among competitive athletes?

Predictive genetic testing for hypertrophic cardiomyopathy (HCM) in families with a known pathogenic variant is primarily used for what purpose?

Which gene is MOST commonly associated with Marfan syndrome?

What is the MOST common mode of inheritance for the genetic conditions covered in the material, with specific attention to the stated exceptions?

A child presents with fragile bones, blue sclerae, and dental abnormalities (dentinogenesis imperfecta). Which condition is MOST likely?

In the management of Marfan syndrome, what is the primary focus of treatment?

Which of the following maternal factors is associated with an increased risk of congenital heart defects in the developing fetus?

A woman with poorly controlled type 1 diabetes is planning a pregnancy. Which of the following mechanisms is MOST directly responsible for teratogenesis affecting the fetal central nervous system (CNS)?

Radiographic imaging is crucial in diagnosing Osteogenesis Imperfecta (OI). What specific aspect of bone health is BEST evaluated using these techniques?

A patient with Marfan syndrome is noted to have a positive Steinberg's sign. What anatomical relationship does this sign assess?

An individual with suspected Marfan syndrome undergoes molecular testing, but no mutations are found in Fibrillin 1 (FBN1) gene. Which of the following pathogenic mechanisms could still be responsible for the clinical presentation, considering the overactive TGF-β pathway involvement in Marfan syndrome?

What is the primary role of reverse transcriptase in molecular biology?

Which of the following best describes the composition of chromatin?

During pre-mRNA processing, which modification is critical for the initiation of proper translation?

If pre-mRNA splicing mechanisms fail, what is the most likely consequence regarding the mature mRNA molecule?

A human somatic cell is described as diploid. What does this indicate about its chromosomal content?

Which of the following nitrogenous base pairings is characteristic of RNA molecules?

According to the central dogma of molecular biology, the typical flow of genetic information in a cell is best represented by which sequence?

What is the approximate percentage of the human genome that is estimated to consist of protein-coding genes?

What genetic phenomenon results from the incorrect separation of chromosomes after the first normal division of the fertilized egg, leading to cells with varying chromosome numbers?

Following DNA replication and chromosome condensation during mitosis, what is the structure composed of two identical DNA molecules joined at the centromere called?

A newborn presents with a protruding tongue, open mouth, and a single palmar crease. Which of the following congenital conditions is MOST likely?

Considering the viral central dogma, which process is a notable exception to the typical flow of genetic information and is commonly observed in retroviruses like HIV?

What is the MOST common genetic cause of Down Syndrome?

A prenatal ultrasound at 12 weeks gestation reveals an omphalocele in a fetus. Which of the following conditions is MOST likely?

Which physical exam finding is MOST indicative of Edwards syndrome (Trisomy 18)?

A newborn presents with postaxial polydactyly and rocker-bottom feet. Which of the following conditions is MOST likely?

A 16-year-old male is noted to have delayed puberty, gynecomastia, and small testes. Which of the following chromosomal abnormalities is MOST likely?

Surgical repair is typically advised for which of the following conditions?

A newborn has difficulty feeding due to an absent sucking reflex. Which of the following conditions is MOST likely present?

What inheritance pattern is MOST commonly observed in cases of cleft lip and/or palate?

A child presents with craniosynostosis and syndactyly of the hands and feet. Which condition is MOST likely?

Which of the following genes is MOST commonly associated with bone formation abnormalities in Apert syndrome?

Rhizomelia, trident hands, genu varum, and frontal bossing are characteristic features of which skeletal dysplasia?

A patient presents with xanthomas on their Achilles tendon and elbows. Which condition is MOST likely?

Which of the following chromosomal locations contains pathogenic variants associated with Familial Hypercholesterolemia (FH)?

A young athlete experiences sudden cardiac death during exercise. Autopsy reveals significant left ventricular hypertrophy (LVH) and myocardial disarray. Which condition is MOST likely?

Which of the following best describes the underlying mechanism of LDL elevation in individuals with Familial Hypercholesterolemia (FH) due to LDL receptor mutations?

A newborn presents with overlapping fingers, rocker-bottom feet, and a prominent occiput. Which of the following cytogenetic abnormalities is MOST likely?

A 5-year-old child is noted to have brachycephaly, epicanthal folds, and a single palmar crease. Which of the following screening tests would be MOST appropriate to confirm the suspected diagnosis?

A 3-month-old infant is diagnosed with 22q11.2 deletion syndrome. What is the MOST important initial step in managing this patient beyond addressing any immediate cardiac issues?

Which of the following maternal infections during pregnancy is MOST strongly associated with chorioretinitis, sensorineural hearing loss, and microcephaly in the newborn?

Which of the following facial features is LEAST likely to be associated with Fetal Alcohol Syndrome (FAS)?

A 28-year-old woman with a known history of Ehlers-Danlos syndrome (EDS) presents for preconception counseling. She reports easy bruising, joint hypermobility, and a family history of sudden death due to aortic rupture. Which subtype of EDS is MOST likely?

A 14-year-old female is diagnosed with Turner syndrome. Which of the following clinical findings is MOST likely?

A researcher is studying a family with a history of a genetic disorder. The proband's karyotype reveals a Robertsonian translocation involving the long arms of chromosomes 14 and 21. What is the MOST accurate description of this chromosomal abnormality?

A child is diagnosed with Apert syndrome. What genetic mutation is most likely the cause of this condition?

Which of the following physical characteristics is commonly associated with Osteogenesis Imperfecta (OI)?

A patient presents with xanthomas, xanthelasmas, and corneal arcus. Which genetic condition is most likely?

Which of the following is a potential symptom of Hypertrophic Cardiomyopathy (HCM)?

What is the primary goal of using beta-blockers in individuals with Marfan syndrome?

Which of the following genes is most commonly associated with Achondroplasia?

During embryonic development, which of the following structures gives rise to facial structures and parts of the heart?

A prenatal ultrasound reveals severe growth restriction, microcephaly, midline facial clefting, and post-axial polydactyly in a fetus. Which genetic condition is most likely?

A newborn presents with micrognathia, which is causing airway obstruction. This presentation is most consistent with which of the following conditions?

A tall male with mild intellectual disability is found to have gynecomastia and small testes. What hormonal therapy is typically administered to these patients and what chromosomal abnormality is likely present?

A child presents with craniosynostosis, hypertelorism, and mitten deformity. Genetic testing reveals a gain-of-function mutation. Which gene is MOST likely involved?

A newborn presents with multiple fractures detected on prenatal ultrasound, blue sclerae, and is later diagnosed with Osteogenesis Imperfecta. Which of the following genetic mechanisms is MOST likely responsible?

A patient presents with xanthomas, xanthelasmas, and corneal arcus. Family history reveals multiple cases of early myocardial infarction. What is the MOST likely underlying genetic condition?

A young athlete experiences syncope during exertion. Evaluation reveals left ventricular hypertrophy. Genetic testing is performed. Variants in which of the following structures would be MOST likely identified?

A tall, thin male patient presents with arachnodactyly and a high arched palate. An echocardiogram reveals aortic root dilation. Variants in which of the following proteins would be MOST likely?

A child is diagnosed with achondroplasia. Which of the following physical exam findings is MOST likely?

During embryogenesis, a group of cells migrates from the dorsal aspect of the neural tube to various areas, including the face and heart. Disruption of these cells can result in craniofacial and cardiac abnormalities. Which cells are these MOST likely to be?

A prenatal ultrasound reveals severe growth restriction, microcephaly, midline facial clefting, congenital heart defects and post-axial polydactyly in a fetus. Which of the following chromosomal abnormalities is MOST likely?

A clinician notes that their patient has bulbous nose, and underdeveloped facial features on one side, which seems to have arisen from vascular disruption during development. What is the MOST likely diagnosis?

A geneticist is studying single nucleotide polymorphisms (SNPs). Which of the following statements is MOST accurate regarding SNPs?

Which of the following molecular techniques provides the highest resolution for detecting genetic mutations at the single base pair level?

A newborn presents with distinct facial features including a bulbous nose, hypertelorism, low-set ears, and cleft palate. Which of the following genetic syndromes is MOST strongly suggested by these findings?

Prenatal screening for Down syndrome commonly involves nuchal translucency measurement via ultrasound. What is the underlying biophysical principle that makes nuchal translucency a useful marker for Down syndrome risk?

Which of the following facial features is LEAST characteristic of Fetal Alcohol Syndrome (FAS)?

A 28-year-old patient with a known history of Ehlers-Danlos Syndrome presents to the emergency department with acute chest pain and shortness of breath. A spontaneous pneumothorax is diagnosed. Considering the various types of EDS, which subtype raises the HIGHEST concern for potential life-threatening vascular complications in this patient?

While Turner syndrome (Monosomy X) is often associated with significant morbidity and mortality prenatally, which of the following clinical features is MOST commonly observed in females who survive to adulthood with this condition?

Prior to administering live vaccines to an infant diagnosed with 22q11.2 deletion syndrome, consultation with which medical specialist is of paramount importance due to a significant risk of complications?

Mosaicism in Down syndrome, where some cells are trisomic for chromosome 21 while others are euploid, arises due to an error in cell division occurring AFTER which key developmental event?

Which of the following clinical presentations is LEAST likely to be observed in a child diagnosed with Down syndrome?

Ehlers-Danlos syndromes are a group of heritable connective tissue disorders. What is the fundamental underlying molecular defect shared across the various subtypes of Ehlers-Danlos syndromes?

Gregor Mendel

Genetics

Trait

Gene

Allele

Phenotype

Genotype

Homozygous

Cloning Vectors

Reverse Transcriptase

Polymerase Chain Reaction (PCR)

Chromatin

Diploid

Haploid Cells

Nucleosome

Sister Chromatids

Central Dogma

Splicing

Hypertrophic Cardiomyopathy (HCM)

HCM Management

Predictive Genetic Testing in HCM

Causes of Congenital Heart Disease

Maternal Diabetes Risks

Turner Syndrome

Coarctation of Aorta

Bicuspid Aortic Valve

Aortic Dilatation

Gonadal Dysgenesis

Marfan Syndrome

Mitral Valve Prolapse

Osteogenesis Imperfecta

What are Introns?

What is a codon?

What is the start codon?

What are the stop codons?

What happens during prophase I?

Where does DNA replication occur?

What is a point mutation?

What is a silent mutation?

Osteogenesis Imperfecta (OI)

OI Type I

OI Type II

Ehlers-Danlos Syndrome (EDS)

Classical EDS

Vascular EDS

22q11.2 Syndrome (DiGeorge/Sprintzen)

Clinical Presentation of 22q11.2 Syndrome

DNA Fingerprinting

Human Genome Project

Gene Therapy Trials

Nuclear Pores

Human Chromosomes

Autosomal Chromosomes

DNA Nitrogenous Bases

RNA Nitrogenous Bases

Base Pairing Rules

5' Cap Addition

X-Chromosome Inactivation

Barr Body

Mosaicism

Down Syndrome (Trisomy 21)

Edwards Syndrome (Trisomy 18)

Patau Syndrome (Trisomy 13)

Klinefelter Syndrome

Omphalocele

22q11.2 Syndrome

Clinical signs of 22q11.2

Karyotype

Fluorescence In Situ Hybridization (FISH)

Chromosome Microarray (CMA)

Next Generation Sequencing (NGS)

Numerical Chromosome Abnormalities

Structural Chromosome Aberrations

X-inactivation

Pedigree: Two Lines

Autosomal Dominant

X-Linked Dominant

X-Linked Recessive

Y-Linked Inheritance

Cleft Lip/Palate

Apert Syndrome

Craniosynostosis

Achondroplasia

Rhizomelia

Trident Hands

Familial Hypercholesterolemia (FH)

Xanthomas

Corneal Arcus

Nondisjunction

Deletion

Duplication

Predictive Genetic Testing

Autosomal Dominant Inheritance

Congenital Heart Disease Causes

Down Syndrome characteristics

Turner Syndrome (45X)

Coarctation of the Aorta

Dentinogenesis imperfecta

Midface Hypoplasia

Syndactyly

Resolution of Genetic Tests

22q11.2 Deletion Syndrome

Down Syndrome Features

Nuchal Translucency Screening

Fetal Alcohol Syndrome (FAS)

Congenital CMV Infection

Turner Syndrome (Monosomy X)

Familial Hypercholesterolemia

Hypertrophic Cardiomyopathy

Neural Crest Cells

Patau Syndrome

Pierre Robin Sequence