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P08.6 De novo mosaic ring chromosome 18 in a child with mental retardation, epilepsy and immunological problems.

✍ Scribed by A. Lo-Castro; C. Galasso; L. Di Carlo; P. Cúratelo


Book ID
114360469
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
36 KB
Volume
15
Category
Article
ISSN
1090-3798

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De novo apparently balanced complex chro
✍ Batanian, Jacqueline R.; Eswara, Marthand S. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 117 KB 👁 3 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