A patient has mental retardation small height

55. A patient has mental retardation, small height, brachydactyly, mongoloid slant. Analysys of his
karyotype revealed trisomy 21. What chromosomal anomaly is it?
A. Down’s disease
B. Klinefelter’s syndrome
C. Turner’s syndrome
D. Trisomy X
E. 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, broad
roundish face, closely placed eyes with narrow palpebral fissures, half-open mouth. Valvular
defect has been also diagnosed. These clinical presentations are most likely typical for Down’s
syndrome. Name the cause of such pathology:
58. An 8-month-old child has non-closed palate, multiple eye defects, microcephaly, disorder of
cardiovascular system. Cytogenetic analysis revealed 47 chromosomes with an additional 13th
chromosome. What diagnosis can be made on the basis of clinical observations and cytogenetic
examinations?

E. Klinefelter’s syndrome
59. A 35-year-old male patient has been referred by an andrologist for the genetic counselling
because of his deviations of physical and mental development. Objectively: the patient is tall, has
asthenic constitution, gynecomasty, mental retardation. Microscopy of the oral mucosa cells
revealed sex chromatin (single Barr body) in 30% of cells. What is the most likely diagnosis?
A. Klinefelter syndrome
B. DiGeorge syndrome
C. Down syndrome
D. Recklinghausen’s disease
E. Cushing pituitary basophilism