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Partial trisomy 14 (q23 leads to qter) via segregation of a 14/X translocation.

An infant with delayed development and multiple congenital anomalies was found to possess a duplication of 14q23 leads to qter. This imbalance arose through segregation of a maternal 14/X translocation, observed in only 28% of the mother's cells. Although the X-chromosome-derived portion of the...

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Autors principals: Cohen, M M, Charrow, J, Balkin, N E, Harris, C J
Format: Artigo
Idioma:Inglês
Publicat: 1983
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1685733/
https://ncbi.nlm.nih.gov/pubmed/6881140
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