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IV. FUNDAMENTALS OF MEDICAL GENETICS541. Research Methods for Medical Genetics 542. Methods of diagnosis of hereditary diseases 543. Methods of prevention of hereditary diseases 544. Probability of birth of sick children with the autosomal recessive disorder in marriage heterozygous parents of 545. Hemophilia - X - linked recessive disease. If the mother - the bearer (HNHh) hemophilia gene, then the probability of the sons of Hemophilia 546. Hemophilia - X - linked recessive disease. If the mother - the bearer (HNHh) hemophilia gene, then the probability of the daughters of hemophilia 547. Hemophilia - X - linked recessive disease. Determine the genotype of a woman hemophiliac 548. Color blindness - X - linked recessive disease. If the mother-bearer (HDHd) color blindness gene, then the probability of blindness in children of equal 549. In newborn infants, there are mutations 550. In genetic counseling resulted in a child aged 4 years, with moderate mental retardation. On examination, set flat face, Mongoloid slit eyes, epikant, poor location of the ear, etc. At cytogenetic study of the karyotype of the child 47, XY (21 +). Define the diagnosis 551. In the antenatal clinic the woman 30 years, with complaints of primary amenorrhea, infertility. On examination, short stature (145 cm), wing-folds on the neck, hypoplasia of the secondary sexual signs of. cytogenetic study found a karyotype 45, XO. Define the diagnosis 552. newborn observed multiple malformations of the urinary and respiratory systems. Draws attention to a kind of a baby crying. For cytogenetic study found 46, XY (5p). Put a diagnosis 553. In the medical-genetic consultation asked a pregnant, 45 years old. In the prenatal study, ultrasound identified multiple malformations of internal organs in the fetus, fetal karyotype 47, XY (13 +). Put a diagnosis 554. Syndromes are accompanied by changes in the number of sex chromosomes 555. The cause of disease gene mutations 556.Etiologic monogenic disease mutations are accompanied by 557. By hereditary hemoglobin disorders are 558. Monogenic inheritance of the disease by type of classified 559. Specify a polygenic disease 560. To include hereditary fermentopathy 561. Warning signs of clinical disease has been successfully applied for 562. The patient, an increase of the liver, and spleen. When clinical and laboratory study found a sharp decrease in the level of tserruloplazmina in the blood. Place the diagnosis of the disease 563. Mode of inheritance of the disease an autosomal dominant with incomplete dominance. In homozygous disease is a severe form, is observed in heterozygotes subclinical form. In the study of blood marked change in the shape of red blood cells. Put a diagnosis 564. For multifactorial diseases are 565. It is characteristic of diseases associated with a change in the number of autosomes 566. Methods of treatment of chromosomal diseases 567. Methods of diagnosis of chromosomal diseases 568. The main clinical and morphological features of Down syndrome 569. Metabolic diseases are diagnosed using the methods 570. Inheritance of hemophilia 571. Children of single parents in the preparation of a pair of pedigree are called 572. Violations of the number of chromosomes diagnosed by 573.Amniotsentez - is 574. Using the genealogical method can be set 575. Determine the combination of direct methods for prenatal diagnosis 576. The timing for amniocentesis 577. For invasive methods of prenatal diagnosis are 578. Screening programs are divided into 579. Medico-genetic counseling is shown 580. For an autosomal recessive trait characterized by the type of inheritance 581. For non-invasive methods of prenatal diagnosis is 582. For X-linked recessive trait characterized by the type of inheritance 583. Prenatal diagnosis by amniocentesis is carried out 584. For an autosomal dominant trait characterized by the type of inheritance 585. By means of cytogenetic methods can be found 586. Hereditary resistance to biological factors - malaria plasmodia observed in 587. Hemolytic anemia occurs in some people with eating beans due to a shortage of the enzyme 588. By indirect methods of prenatal diagnosis of hereditary diseases is 589. The cause of chromosomal diseases 590. Which of the diseases related to chromosomal 591. For monogenic diseases is 592. For diseases with a genetic predisposition is 593. The interaction of genetic and environmental factors of the environment leads to the development of the disease 594. Medico-genetic counseling - a 595. Statement for genetic counseling 596. Prospective counseling 597. For non-invasive methods of prenatal diagnosis are 598. Prenatal diagnosis by amniocentesis is characterized by 599. Preimplantation diagnosis of 600. Screening Program 601. Indications for CIM 602. Retrospective advice 603. Prospective medical and genetic counseling is shown 604. Medical confidentiality is 605. The transfer of information constituting a medical mystery to others allowed 606. The transfer of information constituting a medical secret to others, is not allowed 607. Submission of data representing medical secrecy, without the consent of the patient is allowed 608. Submission of data representing medical secrecy, without the consent of the patient may 609. Conditions of medical confidentiality 610. The state guarantees the right of citizens of the RK 611. The state guarantees the right of citizens of the RK 612. Citizens have the right to RK 613. Citizens have the right to RK 614. A woman has the right to 615. The right to maternity protection is guaranteed 616. Citizens are obliged to 617. pregnant women 618. The patient has the right to 619. Information can be hidden from the patient 620. Types of inheritance of genetic diseases 621. Proband ill hypertension. His mother is ill and hypertension, according to the mother proband is known that the grandfather of the proband and his brother is sick, that is, proband and his uncle is sick hypertension. The father of the proband is healthy, his parents and siblings as well. spouse proband is healthy and comes from a healthy family. Determine the nature of the disease 622. Penentrantsу an autosomal dominant trait, 50%. What is the probability of a sick child if one parent is healthy and another sick and heterozygotes 623. Penentrantsy an autosomal dominant trait, 50%. What is the probability of a sick child if one parent is healthy and another sick and homozygotes 624. Normal hearing person develops as a result of complementary the interaction of two dominant genes (A and B). Specify the genotypes of the deaf people 625. Normal hearing person develops as a result of complementary the interaction of two dominant genes. Specify the genotypes of people with normal hearing 626. Some forms of polydactyly (six-fingered) are inherited in an autosomal dominant type. What is the probability of sick children in a marriage two heterozygous for this gene 627. Achondroplasia is an autosomal dominant disease. What is the theoretical probability of sick children in a marriage two heterozygotes 628. One form of hereditary deafness is caused by a recessive gene. from marriage a deaf woman with a normal male child was born deaf. What is the likely to give birth to a healthy baby 629. The woman, homozygous for the gene of phenylketonuria, but has no clinical signs of illness, entered into marriage with a heterozygous male. What is the probability birth of sick children in the family 630. Phenylketonuria is inherited in an autosomal recessive manner. Population frequency 1:10,000 newborns. What is the frequency of the recessive gene in the population 631. Phenylketonuria is inherited in an autosomal recessive manner. Population frequency 1:10,000 newborns. What is the frequency of the dominant gene in the population 632. It is characteristic of autosomal dominant inheritance 633. It is characteristic of autosomal recessive inheritance 634. It is characteristic of autosomal recessive inheritance 635. Characteristic of X-linked recessive inheritance 636. In the medical-genetic consultation asked a pregnant woman whose a child with isolated cleft lip. What type of hereditary pathology is likely this defect 637. In the medical-genetic consultation asked a pregnant woman, who had a son with hemophilia. The father of the child is healthy, the brother of a pregnant hemophilia. Sex of fetus is unknown. Determine the genetic risk of disease 638. In the medical-genetic counseling the couple appealed. My husband is sick achondroplasia (an autosomal dominant disorder) and heterozygotes. The first child the family is healthy. Gene penetrance of 80%. What is the genetic risk for the next Child 639. In the medical-genetic consultation asked a mother of two children of different patients sex with the same type of pathology of the respiratory system. The parents are healthy. Determine the type of inheritance and the risk of having a second affected child 640. In the medical-genetic consultation asked a couple having sick child with an autosomal dominant disease. The parents are healthy, age wife - 25 years old, her husband - 45 years. Identify possible causes of child illness 641. In the medical-genetic consultation asked young couple who are in Incestuous marriages without children. Which character would be health genetic counseling and evaluation of genetic risk in offspring 642. In the medical-genetic counseling the woman having a child with Down's syndrome. Karyotype of the child 46, t 13/21. What the study recommends consultant 643. The selective (selective) screening of inherited metabolic diseases conducted in groups of children with 644.V medical-genetic consultation asked the couple where the husband there is a disease transmitted only through the male line. Determine the type of inheritance of the disease 645. Some forms of cataracts are inherited in an autosomal dominant manner. Penetrance of the gene is 50%. What is the probability of contracting cataracts in children family where one parent has this pathology and heterozygotes 646. In genetic counseling of the family revealed two cases of children with autosomal dominant disease. Grandpa and Aunt children are sick, his father - is healthy. Penetrance of the gene is 80%. What is the risk of re-birth of sick children 647. Massive screened programs are aimed at 648. The terms of the mass programs are screened 649. Mass newborn screening to detect genetic defects exchange is carried out in terms of 650. Screening programs can identify newborns hereditary disease 651. The methods of prevention of hereditary diseases is 652. By Mendelian hereditary diseases are 653. Hereditary disease caused by a mutation in a single gene, are characterized by signs of 654. Chromosomal disease due to changes in the number and structure of chromosomes, appear superficially 655. Polysomy in the sex chromosomes are characterized by 656. Some people have a high sensitivity to ultraviolet rays causes xeroderma pigmentosum, which is characterized by 657. A normal human ear is controlled by two dominant genes (E and D), located in different pairs of chromosomes. Determine the type of interaction and genotypes deaf individuals 658. Determine the type of trait inheritance, if he appears in a generation regardless of sex, are born to healthy parents sick children 659. The genetic risk can be 660. The theoretical risk is calculated for 661. The empirical risk is calculated for 662. Autosomal inheritance of disease leads to the birth family 663. For a polygenic disease characterized by 664. The most important features of hereditary diseases are 665. Chromosomal diseases can be identified by the following clinical signs
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