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Postnatal diagnosis of de novo complex der(8) in a boy with prenatal diagnosis of recombinant chromosome 8 syndrome

Recombinant chromosome 8 syndrome is caused by duplication of 8q and deletion of 8p. A fetus with anomalies was misdiagnosed with this syndrome based on an amniocyte karyotype. Postnatal chromosomal microarray and other studies identified a de novo derivative chromosome 8. For fetal anomalies, detai...

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Detalles Bibliográficos
Autores principales: Oren, Marina S., Camacho, Jenny E., Xie, Hongyan, Lowe, Jean, Cushing, Tom, Clericuzio, Carol, Maxwell, Jessie R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6509895/
https://www.ncbi.nlm.nih.gov/pubmed/31110711
http://dx.doi.org/10.1002/ccr3.2109