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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Bibliographic Details
Main Authors: Della-Rosa,Valter Augusto, Vianna-Morgante,Angela M.
Format: Digital revista
Language:English
Published: Sociedade Brasileira de Genética 2000
Online Access:http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000300008
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