Molecular Biology and Genetics (GATE)
| Description: GATE | |
| Number of Questions: 15 | |
| Created by: Varsha Mane | |
| Tags: Disorders and Syndromes Biotechnology Molecular Basis of Genetic Diseases and Applications |
Which of the following statements about 13q deletion syndrome is/are incorrect?
- Congenital heart diseases are associated with 13q deletion syndrome.
- Deletions from 13q33 to the end of the chromosome are associated with intellectual disability.
- Deletions that include the 13q32 band consist of brain development gene BRCA2, and are associated with arhinencephaly.
Assertion: ABCD syndrome is a cell migration disorder of the neurocytes of the gut and sensorineural deafness. Reason: Skin of an affected individual is albino pale besides the brown patches of mispigmented skin.
Which of the following pairs of 'disorder - its effect' is incorrectly matched?
Which of the following is a genetic and endocrine syndrome that affects both genders, discloses itself in males as complete phenotypical feminisation and in females as hyperfeminisation?
Which of the following disorders is an autosomal recessive metabolic disorder that causes bluish urine-stained diapers in infants?
Which of the following is/are autosomal recessive congenital malformation syndrome(s) involving both upper and lower extremities?
- Cenani-Lenz syndrome
- Central hypoventilation syndrome
- Caudal regression syndrome
Match the following:
| List - I | List - II |
| A. Maroteaux-Malamut syndrome | 1. Cluster of facial malformations |
| B. Acromesomelic dysplasia | 2. Rare neurological disorder |
| C. AIDS dysmorphic syndrome | 3. Rare skeletal disorder |
| D. Alien hand syndrome | 4. Rare congenital malformation syndrome |
Which of the following is an overgrowth syndrome that affects people with various symptoms?
Which of the following pairs of 'disorder - its cause' is/are incorrectly matched?
- Barakat syndrome - defect getting mapped to chromosome 10p
- Blepharophimosis, ptosis, epicanthus inversus syndrome - caused by a mutation in the gene FOXL2 that is located at band 23 on the long arm of chromosome 3
- Brunner syndrome - caused by mutations in the maternally and paternally-derived copies of the gene BLM
Match the following:
| List - I | List - II |
| A. Cockayne syndrome | 1. Ritscher-Schinzel syndrome |
| B. Corneal-cerebellar syndrome | 2. Der Kaloustian-Jarudi-Khoury syndrome |
| C. Cornelia de Lange syndrome | 3. Neill-Dingwall syndrome |
| D. 3C syndrome | 4. Bushy syndrome |
Match the following:
| Column - I | Column - II |
| A. CAMFAK syndrome | 1. Long narrow skull, resembling a football |
| B. Capillary leak syndrome | 2. Low birth weight and a bird-like face may be the first sign |
| C. Carpenter syndrome | 3. Runny nose and gastro-intestinal disorders |
Which of the following is/are long QT syndrome(s) that cause(s) the cardiac muscle to take longer than usual to recharge between beats?
P. Jervell and Lange-Nielsen syndrome Q. Andersen-Tawil syndrome R. Angelman syndrome
Which of the following is a rare autosomal recessive genetic disorder in which skull, skin, fingers, genitals, nipples and abdominal wall appear deformed?
Which of the following disorders occurs due to the mutation in microsomal triglyceride transfer protein that results in scarcities in the apolipoproteins B-48 and B-100?
Which of the following is a ciliopathic human genetic disorder that causes excess body fat accumulation, retinitis pigmentosa, hyperdactyly, hypogonadism and kidney failure?