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A patient has mental retardation small height

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55. A patient has mental retardation, small height, brachydactyly, mongoloid slant. Analysys of hiskaryotype revealed trisomy 21. What chromosomal anomaly is it?A. Down’s diseaseB.Klinefelter’s syndromeC.Turner’s syndromeD. Trisomy XE.Specific fetopathy
56. A child presents with body shortness, mental deficiency, mongoloid palpebral tissures,epicanthal fold, enlarged grooved tongue protruding from the mouth, high palate, maldentition,diastema, cross striation of lips. What hereditary disease are these presentations typical for?
57. Examination of a 7-year-old child revealed the following symptoms: short height, broadroundish face, closely placed eyes with narrow palpebral fissures, half-open mouth. Valvulardefect has been also diagnosed. These clinical presentations are most likely typical for Down’ssyndrome. Name the cause of such pathology:
58. An 8-month-old child has non-closed palate, multiple eye defects, microcephaly, disorder ofcardiovascular system. Cytogenetic analysis revealed 47 chromosomes with an additional 13thchromosome. What diagnosis can be made on the basis of clinical observations and cytogeneticexaminations?
E.Klinefelter’s syndrome59. A 35-year-old male patient has been referred by an andrologist for the genetic counsellingbecause of his deviations of physical and mental development. Objectively: the patient is tall, hasasthenic constitution, gynecomasty, mental retardation. Microscopy of the oral mucosa cellsrevealed sex chromatin (single Barr body) in 30% of cells. What is the most likely diagnosis?A. Klinefelter syndromeB.DiGeorge syndromeC.Down syndromeD. Recklinghausen’s diseaseE.Cushing pituitary basophilism

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