Term
| Phenotypic features of fragile X syndrome |
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Definition
age of onset: childhood mental deficiency dysmorphic facies male macro-orchidism |
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Term
| genetic cause of fragile X syndrome |
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Definition
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Term
| Personality problems of Fragile X |
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Definition
hyperactive hand flapping, biting temper tantrum poor eye contact autistic features
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Term
Chrom. coding for Hunington's disease |
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Definition
| chromosome 4 (see abnormally high CAG repeats) |
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Term
| Familial causes of cancer |
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Definition
several close relaitves with same or genetically associated cancer two family members with same, rare cancer unusually early age onset bilateral tumors in paired organs non clonal- multifocal, successive tumors in same tissue or different organ system of same person
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Term
| Cancers caused by recessive inheritance of defective DNA repair genes |
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Definition
•Ataxia Telangiectasia •Fanconi anemia |
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Term
| Clinical test results of ataxia telangiectasia |
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Definition
| hypersensitivity to X-rays with rearrangements at chromosome 7 and 14 |
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Term
| Clinical symptoms of ataxia telangiectasia |
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Definition
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Term
| Diagnostic test sign of fanconi anemia |
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Definition
undue sensitivity to DNA cross linking agents chromosomal breakage (3-5% lifetime risk of leukemias, cardinomas)
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Term
| Example of nucleotide excision repair defect disorder |
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Definition
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Term
Symptoms/signs of Xeroderma pigmentosa |
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Definition
multiple skin cancers corneal scarring
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Term
| Mode of inheritance of Xeroderma pigmentosa |
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Definition
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Term
Example of cancer caused by defect in post replication repair |
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Definition
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Term
| Effect of defect in GATC endonuclease |
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Definition
| early onset of endometrial and colon cancer |
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Term
Mode of inheritance of mutation of BRCA genes and tumor suppressor genes |
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Definition
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Term
Chromosome Location of BRCA1 and BRCA2 |
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Definition
BRCA1- chromosome 7 BRCA2- chromosome 13 |
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Term
Type of defect seen with mutation in BRCA1, 2 gene |
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Definition
post replication repair defect |
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Term
| Example of mutation in cell cycle blocker |
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Definition
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Term
| Mode of inheritance of familial retinoblastoma |
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Definition
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Term
| Cause of Li-Fraumeni syndrome |
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Definition
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