Open AccessDo some patients with seckel syndrome have hematological problems and/or chromosome breakage?
Author(s) -
Butler Merlin G.,
Hall Bryan D.,
Maclean Ronald N.,
Lozzio Carmen B.,
Opitz John M.,
Reynolds James F.
Publication year - 1987
Publication title -
american journal of medical genetics
Language(s) - English
Resource type - Journals
eISSN - 1096-8628
pISSN - 0148-7299
DOI - 10.1002/ajmg.1320270318
Subject(s) - nijmegen breakage syndrome , genetics , chromosome , breakage , medicine , pediatrics , biology , computer science , dna , gene , dna damage , world wide web , ataxia telangiectasia
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.