Genetic Disorders. Flashcards
Propose what a child with Down syndrome is at risk for.
Venous thromboembolic disease
Gynecomastia
Testicular cancer
Cubitus valgus
Testicular cancer
Identify a key principle of Mendel’s theory.
Different traits have independent assortment.
Gametes are created through heterozygote segregation.
Genes are linked.
Homozygotic individuals have one dominant allele and one recessive allele.
Different traits have independent assortment.
Propose a variable symptom of 47 XXY.
Palmar crease
Low-set ears
Lanky facial appearance
Webbed neck
Lanky facial appearance
Janie is an obese 5-year-old who presents to the clinic for a new patient visit. Physical examination reveals a conductive hearing loss, a high waist-to-hip ratio, and low-set ears. You have your suspicions about a diagnosis. Recommend what kind of testing can confirm a diagnosis.
Amniocentesis
Cardiac evaluation
Spermiogram
Chorionic villus sampling
Cardiac evaluation
Conclude what trisomy 21 is associated with.
Reproductive sterility
Female gender
Mild intellectual disability
ADHD
Mild intellectual disability
Establish a symptom of Turner syndrome.
Conductive hearing loss in children
Fatigue
Lanky build
Decreased body hair
Conductive hearing loss in children
Predict how testosterone deficiency is manifested in Klinefelter syndrome.
Fibrotic gonadal structures
Microorchidism
Poor coordination
Less body hair
Less body hair
Propose what a child with Down syndrome is at risk for.
Certain blood cancers
Body dysmorphia
Gynecomastia
Venous thromboembolic disease
Certain blood cancers
Identify the type of learning disability that exists in a child with Turner syndrome.
Irregular speech
Nonverbal deficits
Problems in achieving developmental milestones
Difficulty reading
Nonverbal deficits
Establish a symptom of Turner syndrome.
Cubitus valgus
Lanky build
Decreased body hair
Fatigue
Cubitus valgus
Explain the meaning of a recessive trait in terms of phenotypic expression.
In a heterozygous pair of alleles, the phenotype expressed is that of the recessive allele.
Offspring can only inherit recessive traits from parents.
A homozygous individual is always recessive.
The only time a phenotype is recessive is when both alleles are recessive.
The only time a phenotype is recessive is when both alleles are recessive.
Determine an implication of Mendel’s second law.
In a dominant-recessive inheritance, 50% are of a recessive phenotype.
Genes of differing traits segregate independently during gamete formation.
Offspring in the second generation are identical in genotype and phenotype to their parents.
In a dominant-recessive inheritance, 25% are homozygous dominant.
n a dominant-recessive inheritance, 25% are homozygous dominant.
Conclude what trisomy 21 is associated with.
Physical growth delays
ADHD
Reproductive sterility
Female gender
Physical growth delays
Determine a unique characteristic of Klinefelter syndrome.
It occurs when one parent has a fractured Y chromosome.
It results from males born with two or more X chromosomes.
It is otherwise known as fragile X syndrome.
It is a condition exclusive to females.
It results from males born with two or more X chromosomes.
Establish what Mendel’s third law dictates.
Some alleles are dominant and some are recessive.
In a dominant-recessive inheritance, 25% of offspring express the recessive trait in the phenotype.
In a dihybrid cross, each of the two alleles is inherited independently from the other.
In a dominant-recessive inheritance, an average of 25% of offspring are homozygous with the dominant trait.
In a dihybrid cross, each of the two alleles is inherited independently from the other.
Janie is an obese 5-year-old who presents to the clinic for a new patient visit. Physical examination reveals a conductive hearing loss, a high waist-to-hip ratio, and low-set ears. You have your suspicions about a diagnosis. Recommend what kind of testing can confirm a diagnosis.
Amniocentesis
Maternal serum screening
Chromosomal analysis
Spermiogram
Chromosomal analysis
Conclude which dental issue is present in a child with Down syndrome.
Small chin
Celiac disease
Protruding tongue
Enamel hypocalcification
Enamel hypocalcification
Identify a key principle of Mendel’s theory.
Gametes are created through heterozygote segregation.
Genes are linked.
Different traits have independent assortment.
All alleles are similar.
Different traits have independent assortment.
Determine what causes a shorter life expectancy in children with Turner syndrome.
Mitral valve stenosis
Congenital hypothyroidism
Horseshoe kidney
Cardiac abnormalities
Cardiac abnormalities
Identify a physical characteristic of a child with Down syndrome.
Bruxism
Cubitus valgus
Congenital hypothyroidism
Hip dislocation
Hip dislocation
Determine what causes a shorter life expectancy in children with Turner syndrome.
Congenital hypothyroidism
Coarctation of the aorta
Horseshoe kidney
Mitral valve stenosis
Coarctation of the aorta
Identify a main principle in the law of dominance and unity.
Phenotypes of the second generation show a 1:1 ratio.
Genes of different traits can segregate independently during gamete formation.
Seventy-five percent of all offspring are homozygous regardless of parental genetics.
At least 50% of all offspring are homozygous, unless both parents are homozygous recessive.
At least 50% of all offspring are homozygous, unless both parents are homozygous recessive.
Propose a variable symptom of 47 XXY.
Low-set ears
Palmar crease
Small fingernails
Poor coordination
Poor coordination
Explain the meaning of a recessive trait in terms of phenotypic expression.
A gene with one dominant allele and one recessive allele will be expressed with the dominant trait.
Offspring can only inherit recessive traits from parents.
In a heterozygous pair of alleles, the phenotype expressed is that of the recessive allele.
Every allele, whether dominant or recessive, is always expressed.
A gene with one dominant allele and one recessive allele will be expressed with the dominant trait.
Establish a symptom of Turner syndrome.
Webbed neck
Microorchidism
Lanky build
Decreased body hair
Webbed neck
Identify the type of learning disability that exists in a child with Turner syndrome.
Problems in achieving developmental milestones
Irregular speech
Problems with math
Difficulty reading
Problems with math
Propose a characteristic of Turner syndrome.
There can be as many as five X chromosomes that can be present.
There are a minimum of three X chromosomes present.
It is the most common chromosomal abnormality.
It is typically not inherited.
It is typically not inherited.
Identify a physical characteristic of a child with Down syndrome.
Congenital hypothyroidism
Bruxism
Cubitus valgus
Unstable atlantoaxial joint
Unstable atlantoaxial joint
Predict how testosterone deficiency is manifested in Klinefelter syndrome.
Fibrotic gonadal structures
Poor coordination
Broader hips
Low posterior hairline
Broader hips
Identify a main principle in the law of dominance and unity.
Phenotypes of the second generation show a 1:1 ratio.
Genes of different traits can segregate independently during gamete formation.
During gamete formation, the alleles for each gene segregate from each other.
Some alleles are dominant.
Some alleles are dominant.
Describe a feature of a child with fragile X syndrome.
Thin vermilion
Poor motor coordination
Small hands
Large ears
Large ears
Recommend a testing method that is useful in diagnosing fragile X syndrome.
BACs-on-Beads™
Ghent nosology
Array comparative hybridization
FMR1 sequencing
FMR1 sequencing
Establish why fetal alcohol syndrome is a problem.
Alcohol increases the likelihood of multiple births.
Drinking alcohol can trigger Prader–Willi syndrome.
Drinking alcohol can cause tongue thrusting and swallowing disorders.
When alcohol crosses the blood–brain barrier, there may be direct effects on the baby.
When alcohol crosses the blood–brain barrier, there may be direct effects on the baby.
You have evaluated a child with fragile X syndrome and are in the processes of ordering therapy for the child. Predict what would benefit this child.
Occupational therapy
Sensory integration
Art therapy
Nutritional therapy
Sensory integration
Determine what kind of therapy is appropriate for a child with Angelman syndrome.
Pharmacologic therapy
Physical therapy
Cardiac rehabilitation
Dietary counseling
Physical therapy
Identify a condition that is linked to fetal alcohol syndrome.
Attention deficit disorder
Infertility
Hypermotoric behavior
Porencephaly
Porencephaly
Determine the function of fibrillin.
It plays a role in cell-to-cell communication.
It provides instructions for making intracellular protein.
It is breaks down collagen.
It provides a reservoir for growth factors.
It provides a reservoir for growth factors.
Identify a condition that may mimic Angelman syndrome.
Prader–Willi syndrome
DiGeorge syndrome
Fragile X syndrome
Fetal alcohol syndrome
Prader–Willi syndrome
Predict how the appearance of a child might be affected by prenatal exposure to alcohol.
The child may have polydactyly.
The child may have a cleft palate.
The child may have hepatosplenomegaly.
The child may have motor ataxia.
The child may have a cleft palate.
Predict how a little girl with Marfan syndrome may be affected.
She probably has a speech impediment.
She is always eating.
She may have strabismus
She has a webbed neck.
She may have strabismus
Establish why fetal alcohol syndrome is a problem.
When alcohol crosses the blood–brain barrier, there may be indirect effects on the baby.
Drinking alcohol can trigger Prader–Willi syndrome.
Alcohol increases the likelihood of multiple births.
Drinking alcohol can cause tongue thrusting and swallowing disorders.
When alcohol crosses the blood–brain barrier, there may be indirect effects on the baby.
Identify a symptom of Prader–Willi syndrome in a school-aged child.
Hand-biting
Attention deficit
Esotropia
Self-talk
Esotropia
Determine a behavioral characteristic of a child with Angelman syndrome.
Hyperphagia
Controlling behavior
Hand-flapping
Atypically happy demeanor
Atypically happy demeanor
Identify a disorder belonging to fetal alcohol spectrum disorders (FASD).
Aarskog syndrome
Fragile X syndrome
Marfan syndrome
Partial fetal alcohol syndrome
Partial fetal alcohol syndrome
Identify a condition that is linked to fetal alcohol syndrome.
Hydrocephalus
Hypermotoric behavior
Infertility
Attention deficit disorder
Hydrocephalus
Determine what kind of therapy is appropriate for a child with Angelman syndrome.
Cognitive behavioral therapy
Melatonin supplementation
Pharmacologic therapy
Dietary counseling
Melatonin supplementation
Determine a key feature of FASD that is used in determining a diagnosis.
Abnormal EEG tracing
Insatiable appetite
Excessive laughter
FAS facial features
FAS facial features
A child with fragile X syndrome usually suffers from atypical social development. Recommend how the clinician will know that this is a case in a 5-year-old child with this diagnosis.
The child has trouble with visual–spatial relationships.
The child has problems remembering things that happened in school.
The child is irritable.
The child has difficulty with sensory integration.
The child has problems remembering things that happened in school.
Determine a key feature of FASD that is used in determining a diagnosis.
Abnormal EEG tracing
Prenatal alcohol exposure
Insatiable appetite
Excessive laughter
Prenatal alcohol exposure
Establish why fetal alcohol syndrome is a problem.
Alcohol increases the likelihood of multiple births.
Drinking alcohol can trigger Prader–Willi syndrome.
Drinking alcohol can cause tongue thrusting and swallowing disorders.
Drinking alcohol during a pregnancy is never safe.
Drinking alcohol during a pregnancy is never safe.
Identify a condition that is linked to fetal alcohol syndrome.
Infertility
Hypermotoric behavior
Anterior commissure
Epilepsy
Anterior commissure
Determine a behavioral characteristic of a child with Angelman syndrome.
Hyperphagia
Mood lability
Hand-flapping
Atypical and frequent laughter
Atypical and frequent laughter
Identify a Marfan-like syndrome.
Dubowitz syndrome
Asperger syndrome
Homocystinuria
Sensory integration disorder
Homocystinuria
Question 11
Establish how the brain is affected structurally relative to neurocognitive function in fetal alcohol spectrum disorders (FASD).
Fetal alcohol spectrum disorders can cause microcephaly.
Fetal alcohol spectrum disorders can impair motor coordination.
Prenatal alcohol exposure causes impairments in impulse control.
Prenatal alcohol exposure causes developmental delays.
Fetal alcohol spectrum disorders can cause microcephaly.
Identify a symptom of Prader–Willi syndrome in a school-aged child.
Hand-biting
Self-talk
Obesity
Attention deficit
Obesity
