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the urine in cystinosis?
A) proteins
B) cystine crystals
B) giperaminoatsiduriya
R) RBCs
D) alkaptonuriya
E) glycosuria
7.st. case studies
A woman married to a sick Chondrodystrophy healthy man. From the husband's parents, brother
and sister are healthy. From the woman's father is sick Chondrodystrophy, her mother and
brother are healthy.
1. Determine the theoretical prediction of the future health of children in the family?
2. Which sex more often affected in Chondrodystrophy?
3. What type of inheritance is typical for Chondrodystrophy?
?
8. Art. In the medical-genetic counseling approached by a woman whose husband is healthy, but
heterozygous for the gene of phenylketonuria.
1. What will the children in this family, the phenotype?
2. What will the children by genotype?
3. With any defect of an enzyme associated phenylketonuria?
4. Which sex more often affects phenylketonuria?
5.Po what type of inherited phenylketonuria
Option number 4
1.st. define - Cystinosis
2.st. differentiate - homogentisuria ..
3.st. make a karyotype - Wolf-Girshhorn, Patau, Klayinfeltr.
4.st. make a family tree - Gaucher disease
5.st. solve the test.
1. Symptoms of the disease, Niemann-Pick?
A) violation of sphingomyelinase activity
B) The decrease in the activity of aldolase
C) increasing the content of sphingomyelin in the liver and leukocytes
D) the initial symptoms: loss of appetite, sudden weight loss, delay of psycho-physical
development
D) tall and long arms
2. Name the four characteristic skin changes with phenylketonuria?
A) hyperpigmentation
B) hypopigmentation
B) dry
D) Eczema
D) scleroderma
6. Art. solve the test.
1. Unlike rickets with phosphate diabetes?
A) the general condition of disturbed little
B) anemia, a malignant form
B) there is no anemia
D) is not involved in the process of RES
D) the general condition is very severe degrees of severity
2. Hereditary and congenital diseases of the connective tissue?
A) MPS
B) phosphate diabetes
B) disease Andersen
D) disease Corey
D) the disease Braunta
E) Chondrodystrophy
7.st. case studies
The young man, whose two brothers died at an early age from agammaglobulinemia (Bruton's
disease), asked for advice about the possibility of his birth children with similar disease. The
family of his wife was not observed the disease.
1. Specify the amount of risk:
a. 100% of the children are sick
b. 50% of the children are sick
in. 25% of the children are sick
, all children will be healthy
2. On what type of inherited disease Bruton?
3. What will be the phenotype children sick man.
8st.
Man (proband) endured in childhood surgery for retinoblastoma (inherited autosomal dominant)
married to a woman whose father also suffered from the disease, the mother, her brother and
sister are healthy. Proband's father also suffered from retinoblastoma, the mother was healthy.
1. Determine forecast future health of children in the family?
2. What were the children, if part of the woman would not have been sick relatives?
3. Will be ill son or daughter?
Option number 5
1.st. define Phosphate diabetes 2.st. differentiate - Marfan syndrome.
3st. make a karyotype - Edwards, Patau, Daun.
4.st make a family tree - galactosemia
5. Art. Solve the test.
1. The disease is characterized by Marfan?
A) arhnodaktiliya
B) The triad of Fallot
B) defective aortic valve
D) dark urine
D) mental retardation
2c family had a child with PKU, phenotypically healthy parents who transferred gene PKU
A. Both
B. father
V. mother
G. Father Father
D. mother's mother.
6.st. Solve the test.
1) for Fanconi syndrome is characterized by?
A) loss of appetite
B) akrozianoz
B) the lack of pigmentation in the skin
D) photophobia
D) muscle hypotonia
E) changes in bone rahitopodobnyh
2. In violation of fat metabolism related?
A. Gaucher disease
B. tyrosinosis
B. phenylketonuria
G. Fanconi syndrome
D. Gierke syndrome
7.st. case studies
A girl of 9 months. Parents are healthy, consist of consanguineous marriage (uncle - niece). The
family's eldest son is healthy. Girl from normal pregnancy, childbirth in time, the CDF - 4700 g,
height - 58 cm, with hypoxia. Since the early days of breast-feeding, after feeding in the early
visited regurgitation, vomiting then appeared after each feeding. The child's condition gradually
worsened, became ikterichnost appeared hepatosplenomegaly, lost weight, braked sharply
deteriorated vision. Parents are healthy spouses, brothers and sisters have families, their children
are also healthy. Sister, husband (wife's aunt) died at the age of 2 years from a similar disease.
1. The diagnosis of the girl?
2. Which group of hereditary diseases is? What is the exchange violated?
3. On what type of inherited? What products do not carry this disease
8.st. The man, whose brother is colorblind, parents with normal vision healthy married
woman. The wife is not in the pedigree of color blindness. Two uncles of the mother, too, was
color blind men. In this family, a daughter was born with normal vision.
1. What could be the following children in the family? On what type of inherited color
blindness?
2. Can a woman be born with color blindness?
3.Narushaetsya whether karyotype patients colorblind
4. Can the healthy children of the family to be born sick colorblind?
Option number 6.
1.st. to define - a syndrome De Toni-Debre-Fanconi
2.st differentiate - tyrosinosis
3.st. make a karyotype - Down, Patau, Klinefelter
4. Art. make a family tree - PKU
5.st. Solve the test.
1. Pompe's syndrome is characterized by
A) beginning in childhood
B) hepatomegaly
B) a hypoglycemic state
D) "globular" heart
D) hyperglycemic state
E) physical weakness
2.What disease is associated with metabolic disorders of amino acid?
A. Ghosh
B. Gierke
B. tyrosinosis
G. PKU
D. Marfan syndrome.
6.st. Solve the test.
1. When cystinosis in the urine can be:
A) proteins
B) cystine crystals
B) giperaminoatsiduriya
R) RBCs
D) glycosuria
2. Genetic diseases of connective tissue?
A) MPS
B) phosphate diabetes
B) disease Andersen
D) disease Corey
D) the disease Braunta
E) chondrodystrophy
7.st. case studies
In the medical-genetic counseling approached by a woman whose husband is healthy, but
heterozygous for the gene of phenylketonuria.
1. What will the children in this family, the phenotype?
2. What will the children by genotype?
3. With any defect of an enzyme associated phenylketonuria?
4. Which sex more often affects phenylketonuria?
5.Po what type of inherited phenylketonuria?
8.st.
Man (proband) endured in childhood surgery for retinoblastoma (inherited autosomal dominant)
married to a woman whose father also suffered from the disease, the mother was healthy. Her
brother and sister also healthy. Proband's father also suffered from retinoblastoma, the mother
was healthy.
1. Determine forecast future health of children in the family?
2. What were the children, if part of the woman would not have been sick relatives?
3. Will be ill son or daughter?
Option number 7.
1.st. define - Edwards Syndromes
2.st. differentiate - renal tubular acidosis.
3.st. make a karyotype - Lejeune, Edwards, Patau.
4.st. make a karyotype - homogentisuria
5.st. Solve the test
1.j glycogen storage group does not belong?
A) disease Niemann - Pick
B) Gierke's disease
B) disease Andersen
D) boleznPompe
D) the disease Corey
E) Marfan's disease
2.Tirozinoz to differentiate?
A. PKU
B. de Toni-Debre - Fanconi
B. cystinosis
G. cystic fibrosis
D. albinism
6. Art. Solve the test.
Hurler's syndrome is characterized by
A) mental retardation
B) severe changes of the skeleton
B) skatotsefaliya
D) hepatomegaly
D) brachycephaly
2. For Gaucher disease is characterized by?
A) hypertrophy
B) malnutrition
B) aphonia
D) dysphagia
D) hepatomegaly
7, Art. case studies
Girl 18 years old, height - 168 cm, weight - 62 kg. Build on the female type, breasts are
underdeveloped, the body hair of mixed type, amenorrhea, an ultrasound of internal genital
organs: the uterus is absent, hypoplastic ovaries, in the pelvic cavity on both sides of the testes
revealed small sizes. From other organs no particular abnormalities. Intelligence is normal.
1. Your diagnosis?
2. What method can be set true sex sick?
3. What could be the karyotype in this disease?
4. What type of inheritance is typical?
8.st. In the medical-genetic counseling approached by a woman whose husband is healthy, but
heterozygous for the gene of phenylketonuria.
1. What will the children in this family, the phenotype?
2. What will the children by genotype?
3. With any defect of an enzyme associated phenylketonuria?
4. Which sex more often affects phenylketonuria?
5.Po what type of inherited phenylketonuria?
Option number 8.
1.st. define - tyrosinosis.
2.st. differentiate - galactosemia
3.st. make a karyotype - Down, Edwards, Patau.
4.st. make karyotype Phosphate diabetes
5.st. Solve the test
1. What is characteristic of PKU
a) "mouse" smell of urine
b) depigmentation of the skin
c) muscular rigidity
d) hand tremor.
e) the bleeding disorder
e) convulsive readiness
2. Syndactyly isA.paukoobraznye fingers
B.paltsy equal length
V.korotkie and fat fingers
G. fused fingers
D.iskrivlenie fingers
6. Art. Solve the test.
1. What is the enzyme defect in galactosemia?
A) tyrosinase
B) phenylalanine - hydroxylase
B) HA - I - foot
T) lipase
D) hexokinase
2. symptoms of Gaucher disease?
A) violation of mineral metabolism
B) autosomal-dominant inheritance
B) the metabolism of glucocerebroside
D) inactivation of the enzyme glucocerebrosidase
D) of the metabolism of lipids
7.st. situational problems.
The young man, whose two brothers died at an early age from agammaglobulinemia (Bruton's
disease), asked for advice about the possibility of his birth children with similar disease.
The family of his wife was not observed the disease.
1. Specify the amount of risk:
a. 100% of the children are sick b. 50% of the children are sick
in. 25% of the children are sick, all children will be healthy
2. On what type of inherited disease Bruton? 3. What will be the phenotype children sick man?
8.st..
Man (proband) endured in childhood surgery for retinoblastoma (inherited autosomal dominant)
married to a woman whose father also suffered from the disease, the mother was healthy. Her
brother and sister also healthy. Proband's father also suffered from retinoblastoma, the mother
was healthy.
1. Determine forecast future health of children in the family?
2. What were the children, if part of the woman would not have been sick relatives?
3. Will be ill son or daughter?
Option number 12.
1.st.Tarif Bering galactosemia.
2.st. Taққoslang-homocystinuria.
3.st. Karyotype tuzing Down, Patau, Lezhsen.
4.st. Phosphate diabetes - clinics simptomlari
5.st. Test eching
1. Fanconi sindromiga harakterli simptomlarni kursating?
A) ishtahani emonlashishi *
B) akrozianoz
B) terida pigmentation yukligi
D) erikdan kurkish *
D) Mushak gipotoniyasi
E) suyaklarda rahitsimon uzgarishlar *
2.Fankoni sindromiga khos belgilarni kursating?
A) rahitik Bilak uzuklar *
B) minor calla
B) tirnoklar EBLD shishasiga uhshash
D) kovurgada chetkalar *
D) ғilaylik *
6. Art. Test eching.
1. Galactosemia klinikasiga Hawes?
A) KOBZEV
B) Kaido kilish, ich ketish *
B) Thane vaznini kamayishi
D) talvasalar *
D) sariғlik
2. Glikogenozlar khos clinics belgilar?
A) mushaklarda oғriқ
B) seizures *
B) yutinganda oғriқ
D) hypoglycemia *
D) coma *
7.st. Masala eching
Қiz bola 18 em, bўyi - 168 cm, vazni - 62 kg. Tana tuzilishi ael tipida, days bezlari rivozhlangan
Soest, tuklar - Aralash tipda, amenorrhea, testes zhinsy bezlar UZIsida: bochadon yўқ,
tuhumdonlar gipoplaziyalangan, kichik chanoқ bўshliғida Ikki tomondan kichik ўlchamdagi
uruғdonlar boron. Boshқa testes organlar tomonidan ўzgarishlar yўқ .. Intelligence normada.
1. Sizning dastlabki tashhisingiz?
2. Bemorning haқiқy zhinsini қaysi method aniқlash mumkin?
3. Ushba kasallik kriotip қanday bўladi?
8. Art. Masala eching.
Marfan kasalligi autosomal - dominant tipda irsiylanadi. Oilada ўғil Islands қiz Marfan kasalligi
Bilan tuғilgan. Er hotinlar soғ. Erin OTAs, Akashi wa singlisi Marfan kasalligi Bilan
kasallangan. Hawtin tomonidan Kasal қarindoshlar yўқ.
1. Қaysi dominant Henny hususiyatiga kўra Eris kasallikni clinics belgilari yўқ.
2. Gene ekspressivligi neem?
3. Dominant gene yang қanday hususiyatga ego?
4. Gene penetrantligi neem?