Monosomy 1p36 - a multifaceted and still enigmatic syndrome: four clinically diverse cases with shared white matter abnormalities.

摘要: Abstract Monosomy 1p36 is the most common subtelomeric deletion syndrome seen in humans. Uniform features of include early developmental delay and consequent intellectual disability, muscular hypotonia, characteristic dysmorphic facial features. The gene-rich nature chromosomal band, inconsistent sizes overlapping clinical have complicated relevant genotype–phenotype correlations. We describe four patients with isolated chromosome deletions. All shared white matter abnormalities, allowing us to narrow critical region for involvement size up 2.5 Mb from telomere. hypothesise that there might be a gene(s) responsible myelin development region. Other significant findings were progressive spastic paraparesis, epileptic encephalopathy, various skeletal anomalies, Prader-Willi-like phenotype, neoplastic changes – haemangioma benign skin tumour, one case, sleep myoclonus, entity not previously described association monosomy. Combined prior studies, our results suggest monosomy more complex causes than classical contiguous gene syndrome.