Partial duplication of chromosome 20(pter->q12)
Partial duplication of chromosome 20 (20pter->20q12) resulting from a maternally inherited translocation t(14;20)(q11;q13) is described in a female child with neuropsychomotor retardation and multiple congenital anomalies. To our knowledge this is the largest duplication of chromosome 20 that includes segments of both the short and the long arms thus far described in a live-born child.
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| Main Authors: | , |
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| Format: | Digital revista |
| Language: | English |
| Published: |
Sociedade Brasileira de Genética
2000
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| Online Access: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000300008 |
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| Summary: | Partial duplication of chromosome 20 (20pter->20q12) resulting from a maternally inherited translocation t(14;20)(q11;q13) is described in a female child with neuropsychomotor retardation and multiple congenital anomalies. To our knowledge this is the largest duplication of chromosome 20 that includes segments of both the short and the long arms thus far described in a live-born child. |
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