FISH analysis of terminal deletions in patients diagnosed with cri-du-chat syndrome

• Published in: Clinical genetics 1999-10, Vol.56 (4), p.282-288
• Main Authors: Catrinel Marinescu, R, Johnson, Elizabeth I, Grady, Deborah, Chen, Xiao-Ning, Overhauser, Joan
• Format: Article
• Language: English
• Subjects: Biological and medical sciences; Child; Child, Preschool; chromosome 5; Chromosome aberrations; Chromosome Deletion; Chromosomes, Human, Pair 5 - genetics; Contig Mapping; cri-du-chat syndrome; Cri-du-Chat Syndrome - blood; Cri-du-Chat Syndrome - diagnosis; Cri-du-Chat Syndrome - genetics; Diagnosis, Differential; DNA Probes; fluorescent in situ hybridization; Humans; In Situ Hybridization, Fluorescence - methods; Infant; Infant, Newborn; interstitial deletion; Medical genetics; Medical sciences; Telomere; terminal deletion
• ISSN: 0009-9163; 1399-0004
• DOI: 10.1034/j.1399-0004.1999.560405.x

Most patients with cri‐du‐chat syndrome have a de novo deletion of the short arm of chromosome 5 (5p). In order to perform extensive phenotype–genotype correlation studies, a relatively easy method for the precise determination of the extent of a patient's deletion is essential. Towards this purpose, a set of minimally overlapping YAC clones that span 5p was identified. A BAC that maps at or near the 5p telomere was also used. A total of 110 patients with previously determined de novo terminal deletions by standard cytogenetic approaches were reanalyzed using the YAC clones and fluorescent in situ hybridization (FISH). Of the 110 samples, 4 patients were determined to have interstitial deletions, 1 patient had an unbalanced translocation, and no deletion could be detected in 2 patients. The FISH results in the 7 patients affect the clinical prognosis for some of these patients. These results demonstrate the need for supplementing standard cytogenetics with FISH analysis when an abnormal karyotype is detected.