We report on two additional cases with duplication of 9p, minor with facial anomalies and developmental delay. Using fluorescence in situ hybridization and single-copy probes, we showed that the first case was a direct duplication, whereas the second case was inverted. The extent of the direct dupli
Molecular cytogenetic characterization of a unique and complex de novo 8p rearrangement
β Scribed by Susanna L. Cooke; Jill K. Northup; Neena L. Champaige; William Zinser; Paul A.W. Edwards; Lillian H. Lockhart; Gopalrao V.N. Velagaleti
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 356 KB
- Volume
- 146A
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## Abstract Two syndromes with abnormalities of the short arm of chromosome 5 have been described: criβduβchat (resulting from 5p deletion) and trisomy 5p. We report for the first time a patient with both syndromes, resulting from a complex chromosomal rearrangement with an inverted duplication of
We report on a case of duplication of the segment 22qll-12 due to a de novo duplication. Molecular cytogenetics studies demonstrated this to be a tandem duplication, flanked proximally by the marker D2224, a centromeric alpha satellite DNA repeat, and distally by D22S260, an anonymous DNA marker pro