Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations.

@article{Ravnan1996Chromosome2M,
  title={Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations.},
  author={J. Britt Ravnan and Emily Chen and Mahin Golabi and Roger V. Lebo},
  journal={American journal of medical genetics},
  year={1996},
  volume={66 3},
  pages={
          250-6
        }
}
Velocardiofacial syndrome (VCFS) and the DiGeorge sequence (DGS) are caused by 22q11.2 deletions. Fluorescence in situ hybridization (FISH) using the DiGeorge chromosome region (DGCR) probe (Oncor) was used to detect 31 deletions in 100 patients with possible VCFS. Retrospective FISH analysis of archived slides from 14 patients originally studied only by high-resolution G banding detected 6 patients with a DGCR deletion, and only 2 of these 6 had a microscopically visible chromosome deletion… CONTINUE READING

Citations

Publications citing this paper.
SHOWING 1-10 OF 13 CITATIONS

Chromosomal aberrations in the Xhosa schizophrenia population

VIEW 4 EXCERPTS
CITES BACKGROUND & RESULTS
HIGHLY INFLUENCED

Presence of 22q11 deletion in postadenoidectomy velopharyngeal insufficiency.

  • Archives of otolaryngology--head & neck surgery
  • 2000
VIEW 4 EXCERPTS
CITES BACKGROUND & METHODS
HIGHLY INFLUENCED

Prevalence of hearing loss and clinical otologic manifestations in patients with 22q11.2 deletion syndrome: A literature review.

  • Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery
  • 2017
VIEW 1 EXCERPT

4q34.1–q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome

Goran Cuturilo, Björn Menten, +4 authors Milena Stevanović
  • European Journal of Pediatrics
  • 2011
VIEW 2 EXCERPTS
CITES BACKGROUND