Term
| Cause of structural chromosomal abnormalities |
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Definition
| chromosome breakage with subsequent reunion in different configuration |
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Term
| Define balanced recipricol translocation |
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Definition
no loss, gain of genetic info only position change no phenotypic consequences (usually) reproductive consequences
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Term
| Define unbalanced rearrangement and the different types of it? |
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Definition
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Term
| Consequences of structural rearrangments |
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Definition
balanced carriers phenotypic risk (low) reproductive risks
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Term
| When can recipricol translocations happen? |
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Definition
| meiotic divisions during crossing over |
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Term
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Definition
| long arm of chromosome X deleted |
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Term
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Definition
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Term
| Cause of Shprintzen syndrome (VCF) |
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Definition
| microdeletion of chromosome 22 |
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Term
| Cuase of Miller Dieker syndrome |
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Definition
| microdeletion of chromosome 17p |
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Term
| Symptoms of Miller-Dieker |
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Definition
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Term
Cause of William syndrome |
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Definition
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Term
| Symptoms of Williams syndrome |
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Definition
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Term
| Clinical indications for chromosome analysis |
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Definition
problems with early growth/dev. stillbirth/neonatal death fertility problems family history of chromosome rearrangements neoplasia
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