(somatotypes) in pathology 1. Three chromosomes of 21st pair were revealed in a baby by karyotyping. Mark the phenotypic manifestation of this mutation.
Down’s syndrome *
2. Test of amniotic fluid for determination of sexual chromatin showed that fetus’s cells include 2 bodies of sexual chromatin (Bar’s bodies). Which disease was revealed in the fetus?
Trisomy X-syndrome *
3. A 20-year-old man complains of headache, failing sight, muscular weakness. His height is 2.00 m, weight is 80 kg, he has long extremities, and kyphosis. On X-ray examination the skull film showed enlargement of Turkish saddle. Sexual chromatin is absent. What pathway is the most possible in appearance of gigantism in the young man?
Excess of growth hormone *
4. A woman addressed to the medical-genetic consultation. Short neck with wingshaped skin folds (“sphinx’s neck”), broad chest, and mammary hypoplasia were revealed in her on examination. What is the most possible diagnosis?
Syndrome of “cat’s cry”
Turner’s syndrome *
5. A child being born in late marriage has short stature, mental retardation, thick geographic tongue, narrow palpebral fissures, and flat broad face. What disturbance underlies development of described syndrome?
Hereditary chromosomal pathology *
6. Mother’s karyotype has 45 chromosomes. There was revealed that it connects with translocation of the 21st chromosome to the 15th one. Which disease more possible would develop in her child if the father’s karyotype is normal?
Down’s syndrome *
7. A child with hereditary defects manifested characteristic syndrome named “cat’s cry” just after the birth. At that newborns have “meowing” timbre of their voice. In examination of the karyotype of this child following was revealed:
Additional 21st chromosome
Deletion of segment of 5th chromosome *
Lack of X-chromosome
8. A woman addressed to the hospital with complaints of suppurating incised wound. A doctor was cleaning the wound surface with 3% solution of H2O2. But foam did not form. What does absence of preparation activity connected with?
Low concentration of H2O2
Hereditary insufficiency of catalase *
Hereditary insufficiency of erythrocyte phosphate dehydrogenase E. Presence of pus in the wound
9. Sexual chromatin was revealed at examination of the buccal epithelium of a man. Which chromosomal disease is characterized by this symptom?
Klinefelter’s syndrome *
10. A 10-month old baby has fair hair, very white skin and blue eyes. His parents have dark hair. He had normal appearance, but during last three months impairment of cerebral circulation and mental retardation developed in him. The reason for such condition can be: A. Glycogenoses
11. Daltonism (color blindness) was revealed in a 7-year-old boy at examination. His parents are healthy. But his mother’s father had the same anomaly. Which is the type of inheritance of this anomaly? A. X-linked dominant