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)
We report two patients with Rubinstein-Taybi syndrome out of a total of 16 tested who have a deletion of the region visualised by the cosmid probe RT1. These results further confirm this as a locus for Rubinstein-Taybi syndrome.