ABSTRACT
In this report, we describe one-year-old girl diagnosed with 9p-syndrome. Cytogenetic studies of this patient confirmed a karyotype of 46,XX,add(9) (p24) chromosome, but could not find the additional fragment on 9p22 in one allele. Fluorescence in situ hybridization (FISH) studies could not confirm the fragment in the patient using the LIS1 gene probe which mapped to 9p22. The more recently developed M-FISH method clearly showed that the additional fragment was 20p in this patient. These findings suggest that M-FISH analysis may be a useful method for identifying unknown additional and rearranged chromosomes.
Subject(s)
Abnormalities, Multiple/genetics , Chromosomes, Human, Pair 20/genetics , Chromosomes, Human, Pair 9/genetics , Chromosome Deletion , Craniofacial Abnormalities/genetics , Diagnosis, Differential , Female , Humans , In Situ Hybridization, Fluorescence , Infant , SyndromeABSTRACT
Thirty-four patients who had central stenosis of the lumbar spine were treated with wide fenestration, a procedure in which only the medial parts of the inferior facets and the adjoining ligamentum flavum were removed. The patients were followed for an average of five and one-half years (range, four and one-half years to seven years and ten months). Wide fenestration successfully relieved the symptoms. The new bone that was laid down in the operatively treated segments did not reproduce the symptoms of spinal stenosis; instead, it appeared to stabilize those segments.
