D u p l i c a t i o n s o f c h r o m o s o m e r e g i o n 15q11q13 often occur as a supernumerary chromosome 15. Less frequently they occur as interstitial duplications [dup(15)]. We describe the clinical and molecular characteristics of three patients with de novo dup(15). The patients, two males
Chromosome 13q neocentromeres: Molecular cytogenetic characterization of three additional cases and clinical spectrum
β Scribed by Li, Shulan ;Malafiej, Paul ;Levy, Brynn ;Mahmood, Radma ;Field, Michael ;Hughes, Thomas ;Lockhart, Lillian H. ;Wu, Zhanhe ;Huang, Melissa ;Hirschhorn, Kurt ;Velagaleti, Golpalrao V.N. ;Daniel, Art ;Warburton, Peter E.
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 347 KB
- Volume
- 110
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
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
Two unpublished cases with partial tandem duplication of 12p and one previously published case were studied by fluorescence in situ hybridization using 11 cosmid DNA probes from 12p. We propose that the smallest duplications of 12(p13.2pter) and 12(p13.lp13.33) produce the "trisomy 12p syndrome" whi