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Molecular characterization and delineation of subtle deletions in de novo “balanced” chromosomal rearrangements

✍ Scribed by Arun Kumar; Laurie A. Becker; Theresa W. Depinet; J. Marie Haren; C. Lisa Kurtz; Nathaniel H. Robin; Suzanne B. Cassidy; Daynna J. Wolff; S. Schwartz


Publisher
Springer
Year
1998
Tongue
English
Weight
175 KB
Volume
103
Category
Article
ISSN
0340-6717

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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