Genetics and Diseases Quiz

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Questions and Answers

A father has phenylketonuria, the mother is healthy. A type of inheritance is autosomal-recessive. What is the probability of phenylketonuria appearance in their children?

100%

75%

0% (correct)

25%

50%

An 11-month-old child exhibits delayed growth, developmental anomalies (tower skull and Mongolian appearance), and jaundice. Blood test results show erythrocytes 3.8 x 10^12/L, Hb 103 g/L, color index 0.89, and target erythrocytes. What is the diagnosis?

Addison-Birmer's illness

Thalassemia (correct)

Down's illness

Hereditary spherocytosis

Immune hemolytic anemia

A sexual chromatin was revealed in the cells of tunica mucosa of the mouth during the examination of a teenager with mental retardation. What method would be used to specify the diagnosis?

Biochemical method

Genealogical method

Cytogenetic method (correct)

Population-statistical method

Dermatoglyphics method

In an athlete training for a mountain climbing expedition, the pre-training red corpuscle count is 4.5 x 10^12/L. How will the count change at an altitude of 2,500 meters?

Will be absolute erythrocytosis Signup and view all the answers

A man suffers from insulin-dependent diabetes mellitus, and his wife is healthy. What is the probability of insulin-dependent diabetes mellitus developing in their child?

More than in the population Signup and view all the answers

A child was born with numerous defects of external and internal organs, specifically heart, kidney, and digestive system in a maternity hospital. Down's syndrome was diagnosed. What method can be used to confirm this diagnosis?

Cytogenetic method Signup and view all the answers

A 49-year-old woman undergoing hyperbaric oxygenation at 3 atm experiences movement disorders, pain in extremities, and heart pain radiating to her left arm. What is the underlying cause for nervous breakdowns and increased coronary vessel tone?

Action of products of Signup and view all the answers

A man suffers from hemophilia, while his wife and her parents are healthy. Determine the risk of hemophilia appearing in a male child in this family.

All boys will be healthy Signup and view all the answers

What condition results from a sharp transition from a high-pressure atmospheric environment to a normal or low-pressure atmospheric environment?

Explosive decompression syndrome Signup and view all the answers

Which figure in the karyotype diagram represents a girl with Patau syndrome?

Five Signup and view all the answers

Which letter in the karyotype diagram corresponds to an X-trisomy patient?

D Signup and view all the answers

How does the partial pressure of O2 and CO2 change during the ascent to higher altitudes?

O2 and CO2 reduced Signup and view all the answers

Which letter in the karyotype diagram represents a patient with Turner's syndrome?

C Signup and view all the answers

Study Notes

Question 1: Phenylketonuria Inheritance

A father with phenylketonuria (PKU) and a healthy mother have a child with a probability of 25% chance for the child to inherit PKU.
The inheritance type is autosomal-recessive.

Question 2: Possible Disease in a 15-Year-Old Girl

Low growth, absence of sexual signs, wide shoulders, and a short neck in a 15-year-old girl with normal mental development suggests Turner's syndrome.

Question 3: Congenital Disease Definition

Congenital diseases are conditions present at birth.
The correct answer is diseases appearing at birth.

Question 4: Cause of X-Trisomy in a Sick Woman

Undivergence of chromosomes during meiosis causes X-trisomy.

Question 5: Etiology Direction of Disease Causation

Monocausalism is the etiological direction where one cause leads to the disease.

Question 6: Example of Adaptation Illness

Hypertension is an example of human adaptation illness.

Question 7: Effect of Factors on Histohematic Barriers

Fever causes an increased permeability of histohematic barriers.

Question 8: Probability of Hemeralopia in a Newborn Boy

If a father has hemeralopia (color blindness) and is X-linked recessive, the probability of a son having hemeralopia is 50%.

Question 9: Definition of Phenocopy Disease

Phenocopy is a disease-like condition that mimics the effects of a genetic disorder due to environmental factors.
The correct answer is endocrine disease.

Question 10: Provisional Diagnosis for a Boy with Trisomy 21

Trisomy 21 (three copies of chromosome 21) leads to Down syndrome.

Question 11: Pathogenic Principle of Phenylketonuria Treatment

Limiting phenylalanine in the diet is the main treatment approach for phenylketonuria.

Question 12: Time Limit for Clinical Death Reanimation

Reanimation of the organism is possible within the first 5-15 minutes of clinical death.

Question 13: X-Linked Disease Example

Phenylketonuria is not an X-linked recessive disorder.
Color blindness is an example of an X-linked recessive disorder.

Question 14: Inheritance Type in Albinism of Children with Distant Relations

Autosomal recessive is the most probable inheritance type for albinism in children from distant relatives.

Question 15: Method to Diagnose Phenylketonuria

A test with a solution of ferric chloride is used to diagnose phenylketonuria.

Question 16: Diagnosable Diseases with Amniotic Fluid Examination

Chromosomal illnesses can be diagnosed using amniotic fluid analysis.

Question 17: Disorders of Higher Nervous Activity due to Atmospheric Pressure

Increased atmospheric pressure causing nervous system & coordination issues is linked to the toxic effect of ammonia on neurons.

Question 18: Diagnosis in a Patient with Low Growth and Sexual Infantilism

A patient with low growth, inadequate physical development, wide thyroid thorax, and genital infantilism, and indeterminate sexual chromatin, likely has Klinefelter syndrome.

Question 19: Mechanism of Kleinfelter Syndrome Appearance

Mosaicism is the mechanism where a patient has both normal and abnormal cells with a different karyotype.

Question 20: Method to Diagnose Mental Retardation Patient with Sexual Chromatin

Cytogenetic method is applicable for confirming the diagnosis in mental retardation cases involving sexual chromatin examinations.

Question 21: Color Blindness Inheritance Pattern

The inheritance pattern for color blindness if a grandfather and great-grandfather share the same anomaly and there aren't sick women in the family is X-linked recessive inheritance.

Question 22: Percentage Expression of Gene Expression

Percentage of gene expression is referred to as penetration.

Question 23: Mutation Caused by Nitrous Acid

Nitrous acid causes a point mutation by converting cytosine to uracil.

Question 24: Syndrome Due to Mental Retardation, Eunuchoidism and Karyotype 47, XXY

The cause of mental retardation, eunuchoidism, and karyotype 47, XXY is Klinefelter's syndrome.

Question 25: Mechanism for Down's Syndrome Somatic Cell Populations

Mosaicism is the underlying mechanism for Down's syndrome.
Abnormal somatic cells are present.

Question 26: State of Organism with Absent Pulse and Breathing But with Minimal Metabolism

Agony is the state where pulse and breathing are absent, but metabolism remains minimal.

Question 27: Probability of Congenital Cataract in Children

If the father has a congenital cataract and the parents have autosomal-dominant inheritance, the probability of the child inheriting the cataract is 50%.

Question 28: Factors Causing Unknown Diseases

Identifying the illness is reliant on various factors, including lifestyle variables, physical conditions, risk evaluations, psychogenic attributes, and social contexts.

Question 29: Basic Method in Pathophysiology

The fundamental approach in pathophysiology is experimentation.

Question 30: Genotype of Mother with Color Blindness

A mother with a normal color sense, whose son has color blindness and whose husband also suffers from color blindness, is heterozygous for the color blindness gene.

Question 31: Karyotype of a Boy with Chromosome 13 Trisomy and Defects

The syndrome in the case of a boy with trisomy 13 and related defects is Patau syndrome.

Question 32: Diagnosis Indicated by Two Barr Bodies in Amniotic Fluid

The presence of two Barr bodies in amniotic fluid cells suggests Klinefelter syndrome.

Question 33: Disease with No Genotype Role in Origin

Tuberculosis is a disease where the genotype does not define the disease alone; it also involves factors beyond genetics.

Question 34: Effect of Altitude on O2 and CO2 Pressure

At high altitudes, O2 partial pressure decreases while CO2 pressure increases.

Question 35: Karyotype of a Patient with Turner's Syndrome

Turner's syndrome karyotype is characterized by the presence of one X chromosome.
The letter that represents Turner's syndrome is "e. C".

Question 36: Karyotype of a Patient with Kleinfelter Syndrome

Klinefelter syndrome is represented by "a. A" in the given karotype image.

Question 37: Karyotype of a Patient with Down Syndrome

The karyotype of a Down syndrome patient is represented by "b. one" in the given karotype image.

Question 38: Sequence of Terminal States

The sequence of terminal states is preagony, agony, and clinical death).

Question 39: Analysis of Pedigree 2 and Inheritance Type

The pedigree shows autosomal recessive inheritance.

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Description

Test your knowledge on genetic inheritance, congenital diseases, and conditions like Turner's syndrome. This quiz covers key concepts in human genetics and the etiology of various health conditions. Challenge yourself to understand complex genetic scenarios and their implications.