Term
| Hormone not needing evaluation during gynecomastia |
|
Definition
|
|
Term
| Gynecomastia + decreased testosterone + decreased LH |
|
Definition
|
|
Term
| A baby girl with bilateral testes in inguinal canal has karyotype |
|
Definition
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|
Term
| Prophylactic gonadectomy done in |
|
Definition
| Testicular feminizing syndrome |
|
|
Term
| 100% chance of recurrence of Down's syndrome in which genetic defect |
|
Definition
| Trisomy (21, 21) + translocation |
|
|
Term
| Cardiac abnormality in Noonan's syndrome |
|
Definition
|
|
Term
| Not large in fragile X syndrome |
|
Definition
|
|
Term
| Tall, thin male + arachnodactyly + ectopia lentis |
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
1. Holt Oram syndrome
2. Fanconi Anemia
3. Trisomy 13 |
|
|
Term
| HRT increases risk of which cancer |
|
Definition
|
|
Term
|
Definition
| 21-alpha hydroxylase deficiency |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
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|
Term
|
Definition
|
|
Term
| M/C group of diseases following Mendelian inheritance |
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
| Diseases where gene therapy has been considered / used |
|
Definition
1. ADA deficiency (SCID)
2. Hemophilia A
3. Cystic Fibrosis
4. Hypercholesterolemia |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
| DNA analysis cannot be done from which cell |
|
Definition
|
|
Term
| Locus of involvement of Cystic Fibrosis |
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
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Term
|
Definition
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Term
|
Definition
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Term
|
Definition
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