De novo Ring Chromosome 6 in a Child with Multiple Congenital Anomalies
Ring chromosome 6, especially if it is de novo, is a rare occurrence. The phenotype of patients with ring chromosome 6 can be highly variable ranging from almost normal to severe malformations and mental retardation. The size and structure of the ring chromosome as well as the level of mosaicism are...
Main Authors: | , , , , , |
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Format: | Article |
Language: | English |
Published: |
Kobe University School of Medicine,
2010.
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Subjects: | |
Online Access: | Get fulltext |