19/01/2022
Most important and only CPSP highyield..
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HUMAN GENETICS 🧬
1. Karyotype of male Noonan ! = 46XY✓
2. Karyotype of Klinfilter Syndrome ! = 47XXY✓
3. Most common translocation of Down sumdrome! = 46XY(14:21)✓
4. Chromosome associated with fragile X syndrome != Xq27.3✓
5. A newborn who is SGA with epicanthal folds, edema hands ,webbing of neck and urine output 1 plus most likely diagnosis != Turner syndrome ✓
6. A neonate with rocker bottom feet , cleft palate, prominant occiput, narrow nose, pverlapping fingers, and premature appearance; likely != Edward syndrome✓
7. A child presented with coloboma, heart defects, atresia choanae, growth retardation, renal abnormalities and ear abnormalities. What will you do next != Karyotyping ✓
8- A 6 year old child presented with large ears and 20 ml te**es, initial test to do != Karyotyping ✓
9. What is inheritance if there are no skip generation amd male female are equally effected != Autosommal dominant. ✓
10.Male with breast enlargement is seen is != Klinfelter Syndrome✓
11. A neonate with Macroglosia and Omphalocele; Likely diagnosis != Beckwith-Weidman Syndrome ✓
12. What is karyotype a girl presenting with short stature, neck webbing and weaker pulses in legs or groin than it is in the arms of neck ? = 45 X✓
13. A child with large ear and te**es: likely diagnosis ? = Fragile X syndrome ✓
14. Chances of down syndrome in next pregnancy in 21/21 translocation ? = 100%✓
15. Retinitis pigmentosa and polydactyly are found in ? = Bardet- biedl syndrome✓
16. A 5 year child with down syndrome can ride tricycle and copy circle. What is developmental age ? = 3 years ✓
17. 24 year old have birth to Down baby with 21/21 translocation. What to do ? = Karyotyping of both parents ✓
18. A child presenting with macrosomia, hernia and fits. Likely cause ?= Beckwith Weidman syndrome ✓
19. A girl with turner syndrome came for growth hormone replacement. What will you do before starting treatment ? = Bone age ✓
20. A girl presented with abnormal behavior, inappropriate laughter, hand clapping and regression of milestones. What is the feature included in diagnostoc criteria ? = inappropriate laughing ✓
21. A child with dysmorphic facies , obesity, hypogonadism and mental retardation: likely cause ? = Parder willi Syndrome ✓
22. Obesity, retinitis pigmentosa and syndactyly are found in ? = Bardet - Biedl syndrome ✓
23. Gene involved in Parder willi Syndrome ? = P15 mutation ✓
24. A child with down syndrome has increased height and decreased weight. What test to be done ? = T4 and TSH ✓
25. A child presented with features of down syndrome. Her father has 21/21 translocation. What is recurrence risk ? = 100% ✓
26. A tall thin boy presented with gynecomastia and hypopigmentation. How to investigate ? = Karyotyping ✓
27. A short girl with primary amenorrhea, shield like chest and webbed neck. What to do next ? = karyotyping ✓
28. A child with history of FTT initially in infancy is now becoming overweight. He has short stature, almond shaped eyes and thin upper lip. What is best recommendation ? = Growth hormone ✓
29. Cause of fits with beckwith- Weidmann syndrome ? = Hypoglycemia ✓
30. For prenatal screening and diagnosis of down syndrome triple test is performed in ? = 16-18 weeks ✓
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