M C Phelan
Affiliation: University of Tennessee College of Medicine
- 22q13 deletion syndromeM C Phelan
Greenwood Genetic Center, Greenwood, South Carolina
Am J Med Genet 101:91-9. 2001..We recommend high-resolution chromosome analysis and fluorescence in situ hybridization studies, or molecular analysis to exclude this diagnosis...
- FISH analysis of a complex chromosome rearrangement involving nine breakpoints on chromosomes 6, 12, 14 and 16M C Phelan
Greenwood Genetic Center, Greenwood, SC 29646, USA
Prenat Diagn 18:1174-80. 1998..Autopsy revealed gall-bladder hypoplasia and an atrial septal defect. Chromosome analysis of fetal tissue confirmed the presence of the complex rearrangement...
- Albright hereditary osteodystrophy and del(2) (q37.3) in four unrelated individualsM C Phelan
Greenwood Genetic Center, South Carolina, USA
Am J Med Genet 58:1-7. 1995..The association of Albright syndrome and the GNAS1 locus on chromosome 20 is well documented. The observation of a second potential disease locus on chromosome 2 may help explain the heterogeneity observed in this disorder...