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De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities

✍ Scribed by Battisti, C. ;Bonaglia, M.C. ;Giglio, S. ;Anichini, C. ;Pucci, L. ;Dotti, M.T. ;Zuffardi, O. ;Federico, A.


Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
170 KB
Volume
117A
Category
Article
ISSN
0148-7299

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De novo apparently balanced complex chro
✍ Batanian, Jacqueline R.; Eswara, Marthand S. πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 117 KB πŸ‘ 2 views

We describe a complex and unique, de novo apparently balanced translocation involving chromosomes 4, 18, and 21 with 4 breakpoints, in a patient who was referred for an evaluation of possible fragile-X syndrome. Fluorescence in situ hybridization (FISH) confirmed the complexity of the rearrangement