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Mosaic Ring Chromosome 6 in an Infant with Significant Patent Ductus Arteriosus and Multiple Congenital Anomalies

The clinical features of ring chromosome 6 include central nervous system anomalies, growth retardation, facial dysmorphism and other congenital anomalies. Ring chromosome 6 occurs rarely and manifests as various phenotypes. We report the case of mosaic ring chromosome 6 by conventional karyotyping...

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Detalles Bibliográficos
Autores principales: Lee, Seung Jae, Han, Dong Kyun, Cho, Hwa Jin, Cho, Young Kuk, Ma, Jae Sook
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3410245/
https://www.ncbi.nlm.nih.gov/pubmed/22876064
http://dx.doi.org/10.3346/jkms.2012.27.8.948