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1. A boy referred to a genetics clinic was found to have 1 drumstick in blood neutrophils. The boy is likely to have the following syndrome:

A 26-year-old female consulted a doctor about having stool with white flat moving organisms resembling noodles. Laboratory analysis revealed proglottids with the following characteristics: long, narrow, with a longitudinal channel of the uterus with 17-35 lateral branches on each side. What kind of intestinal parasite was found?


Amniocentesis revealed two sex chromatin bodies (Barr bodies) in each cell of the sample. What disease is this character typical for?

4. An 18-year-old male has been diagnosed with Marfan syndrome. Examination revealed a developmental disorder of connective tissue and eye lens structure, abnormalities of the cardiovascular system, arachnodactylia. What genetic phenomenon has caused the development of this disease?

A female patient saught medical-genetic consultation. Physical examination revealed pterygium colli deformity (webbed neck), broad chest, underdeveloped breasts. Study of buccal epithelium cells revealed no X-chromatin in the nuclei. This indicates that the patient has the following syndrome:


When defining blood group according to the ABO system, using salt solutions of monoclonal antibodies, agglutination didn’t occur with any of the solutions. What blood group is it?


A female suffered rubella during pregnancy. The child was born with developmental abnormalities, namely cleft lip and palate. The child’s genotype is normal. These malformations are a manifestation of:


During cell division, DNA replication occurs by a signal from the cytoplasm, and a certain portion of the DNA helix unwinds and splits into two individual strains. What enzyme facilitates this process?


As an example of specific human parasites one can name Plasmodium falciparum, human pin worm and some others. The source of parasite invasion is always a human. Such specific human parasites cause the diseases that are called:

10. The organisms to be identified have a nucleus surrounded by a nuclear membrane. Genetic material is concentrated predominantly in the chromosomes which consist of DNA strands and protein molecules. These cells divide mitotically. Identify these organisms:


A 2-year-old boy is diagnosed with Down syndrome. What chromosomal changes may be the cause of this disease?


An underage patient has signs of achondroplasia (dwarfism). It is known that this is a monogenic disease and the gene that is responsible for the development of such abnormalities is a dominant one. The development of that child’s brother is normal. Specify the genotype of the healthy child:


Examination of the duodenal contents revealed some pear-shaped protozoa with two nuclei and four pairs of flagella. The organisms had also two axostyles between the nuclei and a ventral adhesive disc. What protozoan representative was found in the patient?


A  man  suffering  from  a hereditary disease  married a healthy  woman.  They got  5 children,  three  girls and  two  boys. All  the  girls  inherited their  father’s  disease. What is the type of the disease inheritance?

15. A couple  has a son with haemophilia. The parents are healthy  but the maternal grandfather also has haemophilia. Specify the type of inheritance:

Examination  of  newborns   in  one  of the  Ukrainian cities revealed  a baby  with phenylketonuria. The baby’s parents don’t  suffer  from  this  disease  and  have two    other     healthy    children.    Specify the most likely parents’ genotype with phenylketonuria gene:


Patients with similar complaints  applied to the doctor: weakness, pain in the intestines, disorder of GIT.  Examination of the faeces revealed that one patient with four nucleus  cysts should  be hospitalized  immediately.   For what  protozoa are such cysts typical?


A female patient consulted a physician about digestive disorder, extended abdominal pain. Examination revealed drastic decrease in hemoglobin concentration. It is known from the anamnesis that while living in the Far East the patient used to eat freshly-salted caviar. Some relatives  living with her had the similar condition. What  is the most likely diagnosis?

19. 46 chromosomes were revealed on karyotype examination of the  5 year  old girl. One of the 15th pair of chromosomes is longer than usual due to connected chromosome from the 21 pair. What type of mutation does this girl have?

20. During a prophylactic medical examination   a  7-year-old   boy  was  diagnosed with  daltonism.   His parents are  healthy and have normal colour vision, but his grandfather on his mother’s side has the same abnormality. What is the type of the abnormality inheritance?

It is known that the gene responsible for development of blood groups according to  AB0  system  has  three  allele  variants. If a man has IV blood group, it can be explained by the following variability form:

22. According to the phenotypic diagnosis  a female  patient has been  provisionally diagnosed with X-chromosome polysomia.  This  diagnosis  can  be  confirmed by a cytogenetic  method.  What karyotype will allow  to  confirm  the  diagnosis?

A patient complains  of skin itch, especially between fingers, in the inguinal creases,  on  the  lower  abdomen. Examination   of  these   regions   revealed   there some small vesicles. Laboratory diagnostics allowed to establish  that  this condition had  been  caused  by  a  representative of Arthropoda. Specify  the  disease  caused by this arthropod:


Cytogenetic examination of  a  patient  with dysfunction  of the  reproductive system revealed  normal  karyotype 46,ХУ in some cells, but most cells have Klinefelter’s syndrome  karyotype - 47,ХХУ. Such phenomenon of cell inhomogeneity is called:


Life   cycle   of   a   cell   includes   a process   of  DNA   autoreduplication.  As a result of this process monochromatid chromosomes become  bichromatid. This phenomenon is observed within the following period  of the cell cycle:


A cell at the stage of mitosis anaphase was stimulated by colchicine  that  inhibits  chromosome separation  to  the  poles. What type of mutation will be caused?


Examination  of  duodenal contents revealed   some   pyriform   protozoa  with twin  nuclei   and   four   pairs   of  flagella. There  were two supporting filaments between the  nuclei  and  a  suctorial  disc on  the  ventral  side. What  representative of protozoa was revealed  in this patient?


A shepherd who has tended sheep together with dogs consulted a doctor about pain  in  his right  subcostal area, nausea, vomiting. Roentgenoscopy revealed a tumour-like formation. What kind of helminthiasis might be suspected?


Sex chromosomes of a woman didn’t separate and  move  to the  opposite  poles of a cell during  gametogenesis (meiosis). The ovum was impregnated with a normal spermatozoon. Which chromosomal disease can be found in her child?


Examination  of  an 18-year-old girl revealed the following features: hypoplasia of  the  ovaries,  broad shoulders, narrow pelvis, shortening of the lower extremities, \\\"sphinx  neck\\\".  Mental development is normal. The girl was diagnosed with Turner’s  syndrome. What kind of chromosome abnormality is it?


Hypertrichosis  is  the  Y-linked character. The  father  has  hypertrichosis, and  the  mother is healthy.  In  this  family, the  probability of having  a child with hypertrichosis is:


A  35-year-old  male  patient has been referred by an andrologist for the genetic counselling  for  the  deviations  of  physical and mental  development. Objectively: the patient is tall, has asthenic  constitution, gynecomastia, mental retardation. Microscopy of the oral mucosa cells revealed sex chromatin (single Barr  body)  in 30% of cells. What is the most likely diagnosis?


Healthy parents  with  unremarkable family history  have  the  child with multiple developmental defects. Cytogenetic analysis revealed  the trisomy 13 in the somatic  cells (Patau syndrome). What phenomenon has caused the defects?


A  pregnant woman  underwent AB0 blood typing. Red blood cells were agglutinated with  standard sera  of the  I and II blood groups, and were not agglutinated  with the  III  group  serum.  What  is the patient’s blood group?


Mother of  a boy  who  had  recently returned  from   a  summer   camp   found some  small  whitish  insects  up  to  3 mm long  on  the  child’s clothing.  Specify  the parasite:


A mother had  taken  synthetic hormones  during   pregnancy.   Her daughter was born with hirsutism formally resembling  of adrenal syndrome.  Such manifestation of variability is called:


Students  study the stages of gametogenesis. They  analyze  a cell having  a  haploid   number   of  chromosomes, and each chromosome consists of two chromatids. The chromosomes are located in the equatorial plane of the cell. Such situation is typical for the following stage of meiosis:


A   specimen   of  an   onion   rootlet includes  a  cell  in  which  the  fully condensed  chromosomes are  located   in the equatorial plane making the monaster. What phase of the mitotic cycle is the cell in?


A patient consulted a physician about chest pain, cough, fever. Roentgenography of lungs revealed  eosinophilic infiltrates which were found to contain  the  larvae.  What  kind  of helminthiasis   are   these   presentations  typical for?


Analysis of the family history of children with Van der Woude syndrome revealed  that  in their  families one  of the parents had the typical for this syndrome defects   (cleft lip and palate, lip pits regardless of  gender). What  is the  type of inheritance of this syndrome?


Medical   examination  at   the   military registration and enlistment office revealed   that  a  15-year-old  boy  was  high, with eunuchoid body proportions, gynecomastia,  female   pattern  of  pubic hair distribution. The boy had also fat deposits  on the  thighs,  no facial hair,  high voice, subnormal intelligence  quotient. Which karyotype corresponds with this disease?


One  of  the  parents is  suspected   of having phenylketonuria recessive gene. What  is the  risk of giving birth  to a child with inborn  phenylketonuria?


While  studying  maximally  spiralized chromosomes of human karyotype the process of cell division was stopped in the following phase:


A patient consulted  an urologist about pain during urination. Analysis of his urine taken  in the daytime  revealed  eggs with a characteristic sharp point. It is known from  the  anamnesis that  the  patient has recently  returned from Australia. What is the most likely diagnosis?


Before  a surgery a blood sample of a 30-year-old  man  has  been  typed.  Blood is Rh-positive. Standard  serums  of  such groups as 0 αβ (I), Аβ (II), Вα (III) didn’t activate  erythrocyte agglutination reaction. The group of the analyzed blood is:


A patient working at a pig farm complains    about    paroxysmal    abdominal pain,  liquid  feces with admixtures of mucus and blood, headache, weakness, fever. Examination of large intestine revealed  ulcers  from 1 mm up to several cm large, feces contained oval unicellular organisms  with cilia. What disease should be suspected?


It  was  found  out  that  some compounds, for instance  fungi toxins and some  antibiotics   can  inhibit   activity  of RNA-polymerase.  What  process  will be disturbed in a cell in case of inhibition  of this enzyme?


Examination of a 12-year-old boy with developmental lag revealed achondroplasia: disproportional constitution  with  evident  shortening of  upper and lower limbs as a result of growth disorder of epiphyseal cartilages  of long tubal bones. This disease is:


A  28-year-old   female  patient consulted a  gynecologist   about   sterility. Examination revealed  underdeveloped ovaries and uterus,  irregular menstrual cycle. Analysis of the sex chromatin revealed  2 Barr’s bodies  in most  somatic cells. What  chromosome disease  is most likely?


On  an  electron   micrograph  a  scientist  has  identified   a  structure  formed by  eight  histone  proteins and  a  part  of DNA molecule which makes about 1,75 revolutions around the molecules.  Which structure has been identified?


A male patient has fever and enanthesis.  As   a  result   of  the   examination  involving  serological  tests  he  has been  diagnosed  with fasciola hepatica. It was found  out  that  the  patient had  been infected  through  raw river  water.  Which stage  of fasciola  life cycle is invasive  for humans?


A  patient  presents with  acne  and inflammatory alterations  of  facial  skin. Microscopial   investigation of  lesion  foci has  revealed   live  arthropods  sized  0,2-0,5  mm.  They  have  prolate  vermiform form and four pairs of thin short limbs located  in  the  middle  part  of  the  body. The revealed  arthropods cause:


During  regular  examination of schoolchildren it was revealed  that  a 10 year old girl had asymmetric  oval eggs with a larva in the scrape from her perianal folds. What diagnosis should be made?

54. A  patient has  acne  on  his face.  Microscopic  examination of scrapings from the affected  areas  revealed  living porrect vermiform   arthropoda 0,2-0,5 mm  large with four pairs of short  extremities in the front part of their bodies. What is the laboratory diagnosis?

A   family   of  students  who   came from  Africa  got  a child  with  anemia  signs.   The   child   died   soon.   Examination  revealed  that  the  child’s erythrocytes have  abnormal semilunar shape.  Specify genotypes of the child’s parents:


A patient working at a pig farm complains    about    paroxysmal    abdominal pain,  liquid  feces with admixtures of mucus and blood, headache, weakness, fever. Examination of large intestine revealed  ulcers from  1 mm up to several cm large, feces contained oval unicellular organisms  with cilia. What disease should be suspected?


Normal,  actively dividing cells of human   red  bone  marrow   are  analyzed. What  number   of  cells’  chromosomes is typical for G1 period?


A couple had a child with Down’s disease. Mother is 42 years old. This disease is most probably  caused  by the following impairment of prenatal development:


An  alcoholic  woman  has born  a girl with mental  and  physical  developmental lag. Doctors diagnosed the girl with fetal alcohol syndrome. What effect is the cause of the girl’s state?


A  doctor  revealed  tissues  injury  on patient’s   scalp  with  localized  suppurations and diagnosed his disease  as myiasis. This infestation is caused by larvae of the following insect:

61. A  married couple  consulted  a specialist at the genetic consultation about probability of having children  with hemophilia. Both spouses are healthy,  but the  wife’s father  has  hemophilia. In  this family hemophilia may be passed to:
62. In  the  perianal  folds  of a 5-year-old girl her mother has found some white \"worms\" that caused  itch  and  anxiety  in the  child.  The  \\\\\\\"worms\\\\\\\" were sent  to  the laboratory. During examination the physician saw white filiform helminths 0,5-1 cm long, with pointed ends,  some  helminths had twisted ends. What  is the most likely diagnosis?


A woman  delivered  a dead  child with multiple  developmental defects.  What protozoan disease  might have caused  the intrauterine death?

64. You   are   studying   functioning   of a  bacteria  operon.  The   operator  gene has   been   released  from   the   repressor gene.  Immediately after  this the  following process will start in the cell:

A married couple came to the genetic counselingThe husband suffers from the insulin-dependent diabetes, the wife is healthy.  What  is thprobability that  this couple will have an insulin-dependent child?


While on holiday  in the  countryside a  boy  found  a  spider  with  the  following  morphological  peculiarities: body length   of  2  cm,  round   black  abdomen with  two  rows  of red  dots  on  its dorsal surface,  four pairs of segmented extremities covered with tiny black hairs. Identify this arthropod:


A   man   has   worked   in  an   African  country  for  3 years.  A  month  after his   return   to   Ukraine   he   consulted an    ophthalmologist    and    complained about  eye ache,  eyelid  edema,  lacrimation and temporary visual impairment. Underneath   the    eye   conjunctiva   the doctor  revealed  helminths  30-50 mm long with elongated filiform body. What diagnosis might be suspected?


It   was  proved   that   a  molecule   of immature mRNA (precursor mRNA) contained more  triplets  than  amino  acids   found in   the   synthesized  protein. The  reason  for  that  is that  translation is normally preceded by:


The  territory of an old burial  ground for animal refuse that hasn’t been used for over 50 years is meant  for house building. But soil investigation showed the presence of viable spores of a causative agent causing  a  very  dangerous disease.  What  microorganism might  have  been  preserved in soil for such a long period  of time?


Examination   of   a   12   year    old boy with developmental lag revealed achondroplasia: disproportional constitution  with  evident  shortening of  upper and lower limbs as a result of growth disorder of epiphyseal cartilages  of long tubal bones. This disease is:


A boy has I (I 0I0 ) blood  group  and his sister has IV (I A IB  ) blood group. What blood groups do their parents have?

72. Hartnup disease is caused by point mutation of only one gene which results in  disturbance  of  tryptophane  absorption in the bowels and its resorption in the renal tubules.  It is the reason  for disorder of both  digestive  and  urination systems. What genetic phenomenon is observed  in this case?


According to the data of WHO, for about 250 mln of Earth population fall ill with malaria. This disease is mostly spread in tropical and subtropical regions. Range of its spread falls into the areal of the following mosquitoes:

74. In some regions of South Africa there is a spread sickle-shaped cell anemia, in which erythrocytes have shape of a sickle as a result of substitution of glutamin by valine in the hemoglobin molecule. What is the cause of this disease?


A 32 y.o. man is tall, he has gynecomastia, adult woman pattern of hair distribution, high voice, mental deficiency, sterility. Provisional diagnosis is Klinefelter’s syndrome. In order to specify diagnosis it is necessary to analyze:


Autopsy of a newborn boy revealed polydactylia, microcephalia, cheiloschisis and uranoschisis as well as hypertrophy of parenchymatous organs. These defects correspond with the description of Patau’s syndrome. What is the most probable cause of this pathology?

77. The first grade pupils were examined in order to sort out children for tuberculosis revaccination. What test was applied for this purpose?

A patient has symptoms of inflammation of urogenital tracts. Examination of a vaginal smear revealed big monocellular, pear-shaped organisms with the pointed spike at the posterior end of body, big nucleus and undulating membrane. What protozoa were found in the smear?


A patient complains of pain in the area of his liver. Duodenal intubation revealed yellowish, oval, narrowed at the poles eggs with an operculum at the end. Size of these eggs is the smallest among all helminth eggs. What is the most probable diagnosis?

80. In course of practical training students studied a stained blood smear of a mouse with bacteria phagocyted by leukocytes. What cell organella completes digestion of these bacteria?

Slime, blood and protozoa 30-200 microns long have been revealed in a man’s feces. The body is covered with cilias and has correct oval form with a little bit narrowed anterior and wide round shaped posterior end. At the anterior end a mouth is visible. In cytoplasm there are two nuclei and two short vacuoles. What are the described features typical for?

82. A man who was bitten by the unknown dog applied to the surgeon. Wide ragged wounds were localized on the face. What curative-prophylactic aid should be given to prevent rabies?

A sick man with high temperature and a lot of tiny wounds on the body has been admitted to the hospital. Lice have been found in the folds of his clothing. What disease can be suspected?


A patient with suspicion on epidemic typhus was admitted to the hospital. Some arachnids and insects have been found in his flat. Which of them may be a carrier of the pathogen of epidemic typhus?

85. A businessman came to India from South America. On examination the physician found that the patient was suffering from sleeping-sickness. What was the way of invasion?
86. Hypertrychosis of auricles is caused by a gene that is localized in Y-chromosome. Father has this feature. What is the probability to give birth to a boy with such anomaly?

A tissue sample of benign tumor was studied under the electron microscope. A lot of small (15-20 nm) spherical bodies, consisting of 2 unequal subunits were detected. These are:


Parents with an ill child consulted an infectionist. They had been working in one of Asian countries for a long time. The child has sallow skin, loss of appetite, laxity, enlarged liver, spleen, peripheral lymph nodes. What protozoal illness can be suspected?


Healthy parents have got a fair-haired, blue-eyed girl. Irritability, anxiety, sleep and feeding disturbance developed in the first months of the infant’s life. Neurological examination revealed developmental lag. What method of genetic investigation should be used for the exact diagnosis?


Part of the DNA chain turned 180 degree as a result of gamma radiation. What type of mutation took place in the DNA chain?

91. Analysis of amniotic fluid that was obtained as a result of amniocentesis (puncture of amniotic sac) revealed cells the nuclei of which contain sex chromatin (Barr’s body). What can it be evidence of?

A woman with 0 (I) blood group has born a child with AB blood group. This woman’s husband has A blood group. What genetic interaction explains this phenomenon?