Case Reports
doi: 10.1002/ajmg.1320270318.
Do some patients with Seckel syndrome have hematological problems and/or chromosome breakage?
- PMID: 3115102
- PMCID: PMC5494982
- DOI: 10.1002/ajmg.1320270318
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Case Reports
Do some patients with Seckel syndrome have hematological problems and/or chromosome breakage?
Am J Med Genet.
1987 Jul.
Abstract
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.
Figures
Frontal view of K.G. at 12 yr of age.
Frontal view of J.J. at 10 yr of age.
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