Uniparental disomy as a cause for congenital malformations and or developmental delay in inherited apparently balanced chromosomal rearrangements
Chromosomal translocations are said to be balanced if there is no apparent gain or loss of genetic material. Apparently balanced chromosomal rearrangements are usually associated with a normal phenotype [Therman 1986, Daniel 1988]. However the frequency of mental retardation and congenital anomalies...
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| Format: | Others |
| Language: | English |
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2008
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| Online Access: | http://hdl.handle.net/2429/2422 |