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.
