14188093
Descripción
Fichas por Averil Tam, actualizado hace más de 1 año
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Creado por Averil Tam
hace alrededor de 6 años
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| Pregunta | Respuesta |
| 1. TRUE/FALSE? A. A karyotype can be done on an extracted DNA sample | False. Cell culture technique (lives cells required). |
| 1. TRUE/FALSE? B. A karyotype can usually detect chromosomal deletions or duplications of 1-5Mb in size | False. Detects imbalances of 5-10Mb. |
| 1. TRUE/FALSE? C. A karyotype can detect both balanced and unbalanced translocations | True. |
| 1. TRUE/FALSE? D. A normal karyotype excludes all balanced translocations | False. Submicroscopic chromosome disorders cannot be detected by karyotype. |
| 1. TRUE/FALSE? E. A positive targeted FISH test confirms size of deleted region | False. Targets one gene in 'critical deletion region', does not provide details about size of deletion. |
| 2. TRUE/FALSE? A. CMA can detect large triplet repeat expansions | False. DNA-based method to check genome-wide segmental chromosome deletions/duplications (copy number variations). |
| 2. TRUE/FALSE? B. CMA is a first line test for a child with dysmorphism + developmental delay | True |
| 2. TRUE/FALSE? C. Although the interpretation may be uncertain, a VOUS is a definite abnormality | False |
| 2. TRUE/FALSE? D. A CMA is usually abnormal in a child with Noonan syndrome | False. Normal chromosome studies. Inherited in families in an autosomal dominant pattern - a person who has Noonan syndrome has one copy of an altered gene that causes the disorder. |
| 3. TRUE/FALSE? A. “Genetic heterogeneity” refers to different mutations within the one gene (e.g. >1000 known mutations in CF gene) | False. Refers to differences in DNA bases (ATCG) eg. homozygous AA, heterozygous G, normal GG. |
| 3. TRUE/FALSE? B. Targeted testing for Fragile X is a first line test for DD/ID/ASD, preceding other gene testing | True |
| 3. TRUE/FALSE? C. “Clinical utility” of a gene test does not include impact on family planning | False |
| 3. TRUE/FALSE? D. Cost of testing is not a major issue for doctors practising in the public health system | False |
| 4. TRUE/FALSE? A. The “clinical exome” includes all 20,000 known genes, but not non-coding DNA | False. 1-2% exons (genes) encode translated protein. |
| 4. TRUE/FALSE? B. WES/WGS finds fewer VOUS than chromosome microarray | False |
| 4. TRUE/FALSE? C. In cohort of children with ID/dysmorphism, with no family history, and unrelated parents, the majority of disorders diagnosed by WES are de novo AD | True |
| 4. TRUE/FALSE? D. If WES is not diagnostic, WGS will be. | False. Significant filtering of data - known benign variants, known pathogenic, in silico predictions, inheritance models. |
| 4. TRUE/FALSE? E. Patients having WES/WGS must be informed about all secondary/incidental findings | False |
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