Exceptional Complex Chromosomal Rearrangements in Three Generations

We report an exceptional complex chromosomal rearrangement (CCR) found in three individuals in a family that involves 4 chromosomes with 5 breakpoints. The CCR was ascertained in a phenotypically abnormal newborn with additional chromosomal material on the short arm of chromosome 4. Maternal karyoty...

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Detalles Bibliográficos
Publicado en:Case Rep Genet
Main Authors: Kartapradja, Hannie, Marzuki, Nanis Sacharina, Pertile, Mark D., Francis, David, Suciati, Lita Putri, Anggaratri, Helena Woro, Ambarwati, Debby Dwi, Idris, Firman Prathama, Lesmana, Harry, Trimarsanto, Hidayat, Paramayuda, Chrysantine, Harahap, Alida Roswita
Formato: Artigo
Idioma:Inglês
Publicado: Hindawi Publishing Corporation 2015
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4333187/
https://ncbi.nlm.nih.gov/pubmed/25722897
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2015/321014
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