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Concurrent de novo interstitial deletion of band 2p22 and reciprocal translocation (3;7)(p21;q22).

A child is described with a de novo interstitial deletion of band 2p22 and a reciprocal translocation (3;7)(p21;q22). The child has mild developmental delay, coloboma of the right eye, and Hirschsprung's disease. The clinical and cytogenetic findings are described. IMAGES:

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Webb, G C, Keith, C G, Campbell, N T
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 1988
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1015455/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3346886/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.25.2.125
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