Julie M McGaughran

Learn More
Klippel-Feil syndrome (KFS) is defined as a short neck with decreased movement and low posterior hairline. Radiologically, there is a failure of cervical segmentation. Deafness is a well known associated feature and may be of sensorineural, conductive, or mixed type. The audiological assessment of 44 patients with KFS is reported. Thirty five were found to(More)
Uniparental disomy (UPD) occurs when both homologs of a chromosomal pair come from the father (paternal UPD) or the mother (maternal UPD). Depending on the mechanism by which it arises [Engel, 2006; Robinson, 2000], it can lead to heterodisomy (where both homologous chromosomes from the same parent are present), isodisomy (where two copies of the same(More)
  • 1