Internal_Clinical Genetics Flashcards by EJ Byrne

Which of the following is the most severe manifestation of thalassaemia?
A) HbH disease
B) hydrops fetalis
C) hemolytic anemia
D) cerebral infarction
E) extramedullary hematopoiesis

B) hydrops fetalis

How well did you know this?

Not at all

Perfectly

Associate the following therapeutical approaches to the following genetic diseases!

congenital hypothyroidism

A) dietary restrictions
B) enzyme replacement therapy
C) hormone replacement therapy
D) inhibitor administration
E) replacement of a specific protein (not enzyme)

C) hormone replacement therapy

How well did you know this?

Not at all

Perfectly

Which statement is false for phenylketonuria?
A) autosomal recessively inherited
B) it is the consequence of mutations of the gene encoding phenylalanine hydroxylase
C) the main symptoms are diarrhea and secondary malabsorption
D) elevated phenylalanine levels cause severe neurological symptoms
E) it is screened routinely in new-borns

C) the main symptoms are diarrhea and secondary malabsorption

How well did you know this?

Not at all

Perfectly

What does the term compound heterozygosity mean?
A) More mutations are responsible for a certain disease in autosomal dominantly inherited syndrome.
B) The importance of Y chromosome alterations in sex-linked inheritance.
C) In the case of autosomal recessively inherited disease, different mutations on different allelles of the same gene are jointly responsible for the develeopment of the disease.
D) A rare regulatory mechanism in the case of X-linked dominant inheritance
E) The emergence of different pheotypes due to different mutations int he case of autosomal recessively inherited diseases.

C) In the case of autosomal recessively inherited disease, different mutations on different allelles of the same gene are jointly responsible for the develeopment of the disease.

How well did you know this?

Not at all

Perfectly

Associate the following symptoms with the appropriate monogenic disease!

Chronic obstructive pulmonary disease, pancreatic deficiency, meconium ileus in new-borns, infertility secondary to the atresia of the vas deferens

A) Marfan syndrome
B) cystic fibrosis
C) haemophilia (A and B)
D) Duchenne muscular dystrophy
E) Huntington’s disease

B) cystic fibrosis

How well did you know this?

Not at all

Perfectly

Associate the chance of the birth of affected child with the folowing cases (assume maximal penetrance)!

In the sons of an affected male and a healthy female in X-linked recessive inheritance

A) 25%
B) 50%
C) 100%
D) 0%

D) 0%

How well did you know this?

Not at all

Perfectly

Associate the following symptoms with the appropriate monogenic disease!

Severe muscle weakness, pseudohypertrophy of the calves, mild mental retardation, X-linked inheritance

A) Marfan syndrome
B) cystic fibrosis
C) haemophilia (A and B)
D) Duchenne muscular dystrophy
E) Huntington’s disease

D) Duchenne muscular dystrophy

How well did you know this?

Not at all

Perfectly

At which pregnancy age is amniocentesis recommended?
A) 4–6 weeks
B) 10–12 weeks
C) 15–17 weeks
D) 20–22 weeks
E) 24–26 weeks

C) 15–17 weeks

How well did you know this?

Not at all

Perfectly

Which one of the following is not a characteristic of glucose-6-phosphate dehydrogenase deficiency?
A) X-linked recessive inheritance
B) frequently observed in Mediterranean countries
C) predisposes to hemolytic anemia in homozygotes
D) mental retardation is frequent
E) heteroygosity may have a protective effect against malaria

D) mental retardation is frequent

How well did you know this?

Not at all

Perfectly

Associate the chance of the birth of affected child with the folowing cases (assume maximal penetrance)!

In the relationship of two heterozygote in autosomal recessive inheritance

A) 25%
B) 50%
C) 100%
D) 0%

A) 25%

How well did you know this?

Not at all

Perfectly

Which hereditary tumor syndrome does not predispose to breast cancer?
A) Li-Fraumeni syndrome
B) mutations of BRCA1 gene
C) mutations of BRCA2 gene
D) von Hippel–Lindau disease
E) Cowden syndrome

D) von Hippel–Lindau disease

How well did you know this?

Not at all

Perfectly

Associate the following patterns of inheritance with the characteristics!

Typically, affected individuals are present in all generations. Every child of an affected individual has 50% chance to inherit the disease irrespective of sex. These diseases are less likely to alter life expectancy

A) autosomal recessive
B) autosomal dominant
C) X-linked recessive
D) X-linked dominant
E) polygenic, multifactorial inheritance

B) autosomal dominant

How well did you know this?

Not at all

Perfectly

Associate the following sexual developmental disorders with the characteristics!

Serum levels of 17α-hydroxyprogesterone are elevated

A) testicular feminization (Morris syndrome)
B) 21-hidroxylase deficiency (congenital adrenal hyperplasia)
C) Turner syndrome
D) Klinefelter syndrome

B) 21-hidroxylase deficiency (congenital adrenal hyperplasia)

How well did you know this?

Not at all

Perfectly

Associate the following therapeutical approaches to the following genetic diseases!

haemophilia A and B

A) dietary restrictions
B) enzyme replacement therapy
C) hormone replacement therapy
D) inhibitor administration
E) replacement of a specific protein (not enzyme)

E) replacement of a specific protein (not enzyme)

How well did you know this?

Not at all

Perfectly

Associate the following symptoms with the appropriate chromosomal diseases!

Mental retardation, severe developmental disorder, congenital heart defects, prominent occiput, abnormally small jaw, low-set, malformed ears, affected individuals rarely survive beyond childhood

A) Prader–Willi syndrome
B) Turner syndrome
C) Down syndrome
D) Klinefelter syndrome
E) Edwards syndrome

E) Edwards syndrome

How well did you know this?

Not at all

Perfectly

Associate the following symptoms with the appropriate monogenic disease!

tall, dysmorphic stature, alterations of the skeletal structure, ectopic eyepiece, mitral valve prolapse, dilation and rupture of the aorta

A) Marfan syndrome
B) cystic fibrosis
C) haemophilia (A and B)
D) Duchenne muscular dystrophy
E) Huntington’s disease

A) Marfan syndrome

How well did you know this?

Not at all

Perfectly

Associate the following symptoms with the appropriate chromosomal diseases!

Primary hypogonadism, infertility, tall stature, gynecomastia

A) Prader–Willi syndrome
B) Turner syndrome
C) Down syndrome
D) Klinefelter syndrome
E) Edwards syndrome

D) Klinefelter syndrome

How well did you know this?

Not at all

Perfectly

Associate the following therapeutical approaches to the following genetic diseases!

Gaucher’s disease (glucocerebrosidase deficiency)

A) dietary restrictions
B) enzyme replacement therapy
C) hormone replacement therapy
D) inhibitor administration
E) replacement of a specific protein (not enzyme)

B) enzyme replacement therapy

How well did you know this?

Not at all

Perfectly

Associate the following symptoms with the appropriate monogenic tumor syndrome!

clear cell renal cell carcinoma, pheochromocytoma, retinal and cerebellar hemangioblastoma, pancreatic cysts and neuroendocrine tumor

A) multiple endocrine neoplasia 2A
B) neurofibromatosis type 1
C) von Hippel–Lindau disease
D) Li–Fraumeni syndrome
E) multiple endocrine neoplasia type 1

C) von Hippel–Lindau disease

How well did you know this?

Not at all

Perfectly

The trisomy of which chromosome is the most frequent in live-born new-borns?
A) 13
B) 17
C) 19
D) 21
E) 22

D) 21

How well did you know this?

Not at all

Perfectly

Associate the following sexual developmental disorders with the characteristics!

Disease is due to mutations of the androgen receptor

A) testicular feminization (Morris syndrome)
B) 21-hidroxylase deficiency (congenital adrenal hyperplasia)
C) Turner syndrome
D) Klinefelter syndrome

A) testicular feminization (Morris syndrome)

How well did you know this?

Not at all

Perfectly

By definition, what is the frequeny of a mutation?
A) < 1%
B) < 5 %
C) < 10%
D) < 20%
E) < 30%

A) < 1%

How well did you know this?

Not at all

Perfectly

Which of the following disorder is not a trinucleotide repeat disorder?
A) fragile X syndrome
B) myotonic dystrophy
C) Huntington’s disease
D) Friedreich’s ataxia
E) Rett syndrome

E) Rett syndrome

How well did you know this?

Not at all

Perfectly

Which one of the following is not a characteristic of the fragile X syndrome?
A) it causes moderate mental retardation in affected boys and mild mental retardation in affected girls
B) it belongs to trinucleotide repeat disorders
C) enlarged testicles is a characteristic of the disease in affected boys
D) congenital heart defects are fequently observed
E) the disease is the consequence of FMR1 gene mutations

D) congenital heart defects are fequently observed

How well did you know this?

Not at all

Perfectly

Which one of the following symptoms is not characteristic of cystic fibrosis? A) chronic obstructive pulmonary disease B) deficiency of the exocrine pancreas C) diabetes mellitus D) meconium ileus in new-borns. E) male infertility due to absence of vas deferens

C) diabetes mellitus

What is the chance of the emergence of an autosomal recessively inherited disease in the offspring of two heterozygote carriers? A) 10% B) 25% C) 40% D) 50% E) 60%

B) 25%

Which chromosomal abnormality affecting the sex chromosomes has the highest incidence? A) Turner syndrome B) Klinefelter syndrome C) Triple X sydrome (superfemale) D) 46XX male E) 46XY female

B) Klinefelter syndrome

For which listed chromosome abnormality are the following symptoms characteristic: immunodeficiency, hypoparathyroidism, congenital heart defect? A) Cri du chat syndrome B) DiGeorge syndrome C) Down syndrome D) Turner syndrome E) Prader–Willi syndrome

B) DiGeorge syndrome

When is prenatal diagnostical procedures recommended? A) advanced maternal age B) de novo chromosome abnormality in the previous child C) one parent carries structural chromosomal alteration D) in all three of the previous cases E) none of the previous cases

D) in all three of the previous cases

Which one of the following hereditary metabolic diseases affect purine metabolism? A) Tay–Sachs disease B) Niemann–Pick disease C) Hurler syndrome D) Rett syndrome E) Lesch–Nyhan syndrome

E) Lesch–Nyhan syndrome

Associate the following symptoms with the appropriate monogenic tumor syndrome! parathyroid hyperplasia, endocrine pancreatic tumors, pituitary adenoma A) multiple endocrine neoplasia 2A B) neurofibromatosis type 1 C) von Hippel–Lindau disease D) Li–Fraumeni syndrome E) multiple endocrine neoplasia type 1

E) multiple endocrine neoplasia type 1

Associate the following patterns of inheritance with the characteristics! Familial history of the disease is a characteristic, however the pattern of inheritance does not follow monogenic Medelian inheritance. Emergence of the disease is more common in closer than further relatives of an affected individual. A) autosomal recessive B) autosomal dominant C) X-linked recessive D) X-linked dominant E) polygenic, multifactorial inheritance

E) polygenic, multifactorial inheritance

Which one of the following is not characteristic to diseases of the mitochondrial DNA? A) they can be inherited from the mother and from the father B) by a main rule, they can be inherited only from the mother C) main characteristics include the disorders of the nervous system (including the sensory nervous system) and the muscle system D) there may be wide phenotype variability E) heteroplasmy is one of the main reasons of phenotype variability

A) they can be inherited from the mother and from the father

Associate the chance of the birth of affected child with the folowing cases (assume maximal penetrance)! In the relationship of an affected heterozygote and a healthy individual in autosomal dominant inheritance A) 25% B) 50% C) 100% D) 0%

B) 50%

Which of the following is false for Tay-Sachs disease? A) lysosomal storage disease B) Lisch nodules of the iris is a characteristic C) cherry-red spot on the retina is a characteristic D) neurodegenerative disease E) hexosaminidase A deficiency plays a role int he pathogenesis

B) Lisch nodules of the iris is a characteristic

Which pattern of inheritance is characteristic to blood relation between parents? A) autosomal dominant B) autosomal recessive C) X-linked dominant D) X-linked recessive E) polygenic

B) autosomal recessive

Associate the following therapeutical approaches to the following genetic diseases! familial hypercholesterolemia A) dietary restrictions B) enzyme replacement therapy C) hormone replacement therapy D) inhibitor administration E) replacement of a specific protein (not enzyme)

D) inhibitor administration

Associate the following symptoms with the appropriate chromosomal diseases! Short stature, shield chest, webbed neck, streak gonad, cardiovascular malformations A) Prader–Willi syndrome B) Turner syndrome C) Down syndrome D) Klinefelter syndrome E) Edwards syndrome

B) Turner syndrome

Associate the following symptoms with the appropriate monogenic disease! manifestates in adulthood, severe neurodegenerative disease, autosomal dominantly inherited A) Marfan syndrome B) cystic fibrosis C) haemophilia (A and B) D) Duchenne muscular dystrophy E) Huntington’s disease

E) Huntington’s disease

Associate the following patterns of inheritance with the characteristics! From the relationship of affected males and healthy females all daughters are affected, while all sons are healthy. 50% of an affected female’s children may inherit the disease irrespective of the child’s sex A) autosomal recessive B) autosomal dominant C) X-linked recessive D) X-linked dominant E) polygenic, multifactorial inheritance

D) X-linked dominant

Which one of the following symptoms is not characteristic to Turner syndrome? A) short stature B) streak gonad C) primary amenorrhea D) asthma bronchiale E) coarctation of the aorta

D) asthma bronchiale

Which one of the following diseases has the lowest penetrance? A) multiple endocrine neoplasia type 1 B) multiple endocrine neoplasia type 2 C) neurofibromatosis type 1 D) cystic fibrosis E) haemochromatosis

E) haemochromatosis

Associate the following symptoms with the appropriate chromosomal diseases! mental retardation, short stature, brachycephaly, flat nape, epicanthic fold, congenital heart defects A) Prader–Willi syndrome B) Turner syndrome C) Down syndrome D) Klinefelter syndrome E) Edwards syndrome

C) Down syndrome

Which of the following statements is false for Huntington’s disease? A) it belongs to trinucleotide repeat disorders B) it follows autosomal dominant inheritance C) the disease manifestates in adulthood, usually after 40 years of age D) one manifestation is severe hypertension E) during familial inheritance, the first symptoms presents at earlier age in the offspring of the affected father (anticipation)

D) one manifestation is severe hypertension

Which of the following vitamin’s deficiency has been mostly associated with the development of neural tube defects? A) vitamin B1 B) vitamin B2 C) folic acid D) vitamin C E) vitamin A

C) folic acid

What proportion of the human genome is protein-coding? A) 3% B) 10% C) 25% D) 40% E) 60%

A) 3%

Associate the following symptoms with the appropriate chromosomal diseases! hypotonia and poor feeding during infancy, which turns to hyperphagia and extreme obisity during childhood, disproportionally smaller hands and toes, cognitive disturbancies, reproductive sterility A) Prader–Willi syndrome B) Turner syndrome C) Down syndrome D) Klinefelter syndrome E) Edwards syndrome

A) Prader–Willi syndrome

Associate the following sexual developmental disorders with the characteristics! Classical forms are associated with 45X0 kariotype. A) testicular feminization (Morris syndrome) B) 21-hidroxylase deficiency (congenital adrenal hyperplasia) C) Turner syndrome D) Klinefelter syndrome

C) Turner syndrome

For which mode of inheritance is the following statement true: of the offspring of an affected male and a healthy female, all sons are healthy and all daughters are affected? A) X-linked recessive B) X-linked dominant C) autosomal recessive D) autosomal dominant E) polygenic

B) X-linked dominant

Over what frequency of occurrence in the general population is a genetic variant considered a polymorphism? A) 1% B) 7% C) 10% D) 15% E) 20%

A) 1%

Among the following diseases which one is not autosomal dominantly inherited? A) Marfan syndrome B) cystic fibrosis C) Huntington’s disease D) familial adenomatosus polyposis E) hereditary retinoblastoma

B) cystic fibrosis

Associate the following symptoms with the appropriate monogenic tumor syndrome! medullary thyroid cancer, pheochromocytoma, hyperparathyroidism A) multiple endocrine neoplasia 2A B) neurofibromatosis type 1 C) von Hippel–Lindau disease D) Li–Fraumeni syndrome E) multiple endocrine neoplasia type 1

A) multiple endocrine neoplasia 2A

Which following characteristic is false for acute intermittent porphyria? A) autosomal dominant inheritance B) high penetrance C) mutations of porphobilinogen deaminase are responsible for the disease D) severe abdominal pain which cannot be explained by organic reasons E) vegetative nervous system is often affected

B) high penetrance

Which of the following syndromes is not associated with chromosomal instability arising from deficient DNA repair? A) neurofibromatosis type 1 B) ataxia teleangiectasia C) Bloom syndrome D) xeroderma pigmentosum E) Fanconi anemia

A) neurofibromatosis type 1

Associate the following symptoms with the appropriate monogenic disease! hemorrhagic diatheses, hemarthrosis, decisively boys are affected A) Marfan syndrome B) cystic fibrosis C) haemophilia (A and B) D) Duchenne muscular dystrophy E) Huntington’s disease

C) haemophilia (A and B)

Associate the following therapeutical approaches to the following genetic diseases! phenylketonuria A) dietary restrictions B) enzyme replacement therapy C) hormone replacement therapy D) inhibitor administration E) replacement of a specific protein (not enzyme)

A) dietary restrictions

Which chromosome is affected in Prader-Willi syndrome? A) 3 B) 12 C) 15 D) 17 E) 19

C) 15

What is the chance of emergence of an autosomal dominantly inherited disease in one child of an affected heterozygote individual? A) 10% B) 25% C) 40% D) 50% E) 60%

D) 50%

Associate the following therapeutical approaches to the following genetic diseases! α-1 antitrypsin deficiency A) dietary restrictions B) enzyme replacement therapy C) hormone replacement therapy D) inhibitor administration E) replacement of a specific protein (not enzyme)

E) replacement of a specific protein (not enzyme)

Among the following diseases, in which case does genomic imprinting not constitute to the pathogenesis? A) Prader–Willi syndrome B) Angelman syndrome C) Beckwith–Wiedemann syndrome D) cystic fibrosis

D) cystic fibrosis

Associate the following patterns of inheritance with the characteristics! The disease is much more common in males. All daughters of an affected male will be carrier, while all sons will be healthy. Heterozygote females are usually healthy, however manifestations to some extent may be present A) autosomal recessive B) autosomal dominant C) X-linked recessive D) X-linked dominant E) polygenic, multifactorial inheritance

C) X-linked recessive

At which pregnancy age is chorionic villus sampling recommended to be performed? A) 4–6 weeks B) 10–12 weeks C) 14–16 weeks D) 18–20 weeks E) 24–26 weeks

B) 10–12 weeks

Which one of the following diseases does not predispose to pheochromocytoma? A) von Hippel–Lindau disease B) Gardner syndrome C) multiple endocrine neoplasia type 2 D) neurofibromatosis type 1 E) inherited paraganglioma syndromes

B) Gardner syndrome

Among the following chromosome abnormalities which one is the most frequent? A) Turner-syndrome B) Edwards-syndrome C) Down-syndrome D) Patau-syndrome E) Williams-syndrome

C) Down-syndrome

Which of the following disorders cannot be detected by fetal utrasound imaging? A) holoprosencephaly B) neural tube defects C) omphalocele D) Huntington’s disease E) cystic hygroma

D) Huntington’s disease

Among the following monogenic diseases predisposing for tumorigenesis which one is not autosomal dominantly inherited? A) multiple endocrine neioplasia type 1 B) von Hippel–Lindau disease C) ataxia teleangiectasia D) multiple endocrine neioplasia type 2 E) neurofibromatosis type 1

C) ataxia teleangiectasia

Associate the following patterns of inheritance with the characteristics! These diseases are usually severe. Some generations do not have affected individuals. Blood relations are common in the family history of the affected families. Males and females are affected in the same frequency A) autosomal recessive B) autosomal dominant C) X-linked recessive D) X-linked dominant E) polygenic, multifactorial inheritance

A) autosomal recessive

Which apolipoprotein E allele is linked to Alzheimer’s disease? A) APOA B) APOC C) APOE1 D) APOE2 E) APOE4

E) APOE4

Associate the chance of the birth of affected child with the folowing cases (assume maximal penetrance)! In the daughters of an affected male and a healthy female in X-linked dominant inheritance A) 25% B) 50% C) 100% D) 0%

C) 100%

Which of the following diseases is inherited in autosomal dominant manner? A) multiple Endocrine neoplasia type 1 B) neurofibromatosis type 1 C) von Hippel–Lindau disease D) all three of them E) neither of them

D) all three of them

Associate the following symptoms with the appropriate monogenic tumor syndrome! neurofibroma, neurofibrosarcoma, brain tumor, pheochromocytoma A) multiple endocrine neoplasia 2A B) neurofibromatosis type 1 C) von Hippel–Lindau disease D) Li–Fraumeni syndrome E) multiple endocrine neoplasia type 1

B) neurofibromatosis type 1

Associate the following therapeutical approaches to the following genetic diseases! galactosemia A) dietary restrictions B) enzyme replacement therapy C) hormone replacement therapy D) inhibitor administration E) replacement of a specific protein (not enzyme)

A) dietary restrictions

Associate the following symptoms with the appropriate monogenic tumor syndrome! breast cancer, brain tumor, adrenocortical cancer, sarcomas, leukemia A) multiple endocrine neoplasia 2A B) neurofibromatosis type 1 C) von Hippel–Lindau disease D) Li–Fraumeni syndrome E) multiple endocrine neoplasia type 1

D) Li–Fraumeni syndrome

Which one of the following statements is false for cystic fibrosis? A) the most common fatal autosomal recessive disorder among Caucasian race B) the frequency of carriers is 1/25 C) the frequency of carriers is 1/500 D) it is the consequence of mutations of a protein involved in the transport of chloride ions. E) ΔF508 is the most common mutation.

C) the frequency of carriers is 1/500

What does the term penetrance mean? A) the frequency of a genetic alteration B) the frequency of a certain phenotype int he case of a certain genotype C) a form of genetic regulation D) the expression of small molecular weight RNAs E) region of chromosomal regulation

B) the frequency of a certain phenotype int he case of a certain genotype

Which one of the following is false regarding Duchenne muscular distrophy? A) X-linked recessive inheritance B) it is the consequence of mutations of the largest human protein, dystrophin C) one manifestation is the pseudohypertrophy of the calves D) weakness of the muscles begins in adulthood E) elevated serum levels of creatine kinase

D) weakness of the muscles begins in adulthood

Which two chromosomes are affected by translocation in the case of Philadelphia chromosome? A) 9 and 22 B) 8 and 14 C) 9 and 14 D) 8 and 22 E) 10 and 14

A) 9 and 22

Associate the following sexual developmental disorders with the characteristics! The most frequent disorder affecting sex chromosomes. A) testicular feminization (Morris syndrome) B) 21-hidroxylase deficiency (congenital adrenal hyperplasia) C) Turner syndrome D) Klinefelter syndrome

D) Klinefelter syndrome

Internal_Clinical Genetics Flashcards

(78 cards)