Do some patients with Seckel syndrome have hematological problems and/or chromosome breakage?
We report on a 12-yr-old female and a 14-yr-old male with Seckel syndrome. The 12-yr-old female had pancytopenia, which is seen occasionally in patients with Seckel syndrome and is also a feature of Fanconi anemia, a well-recognized autosomal recessive dwarfism syndrome with chromosome instability. Chromosome breakage analysis of both of our patients also indicated chromosome instability. We suggest that there may be a subgroup of Seckel syndrome patients with chromosome instability and/or hematological problems.
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D002648:Child; D002869:Chromosome Aberrations; D002873:Chromosome Fragility; D002877:Chromosomes, Human / Q000187:drug effects; D004392:Dwarfism / Q000145:classification* / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D016685:Mitomycin; D008937:Mitomycins / Q000494:pharmacology; D010198:Pancytopenia / Q000235:genetics*; D013577:Syndrome
D008937:Mitomycins; D016685:Mitomycin