De novo Ring Chromosome 6 in a Child with Multiple Congenital Anomalies

• Main Authors: Ahmad, Ahzad Hadi, Ramli, Siti Fatimah, Tan, May Loong, Salahshourifar, Iman, Alwi, Zilfalil, Mohd Yusoff, Narazah
• Format: Article
• Language: English
• Published: Kobe University School of Medicine 2010
• Subjects: QH426-470 Genetics; RC Internal medicine
• Online Access: http://eprints.usm.my/37227/1/E79.pdf; http://eprints.usm.my/37227/; http://www.med.kobe-u.ac.jp/journal/contents/56/E79.pdf

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...