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Case Reports
. 1987 Jul;27(3):645-9.
doi: 10.1002/ajmg.1320270318.

Do some patients with Seckel syndrome have hematological problems and/or chromosome breakage?

M G Butler, B D Hall, R N Maclean, C B Lozzio
Case Reports

Do some patients with Seckel syndrome have hematological problems and/or chromosome breakage?

M G Butler et al. 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.

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Figures

Fig. 1
Fig. 1
Frontal view of K.G. at 12 yr of age.
Fig. 2
Fig. 2
Frontal view of J.J. at 10 yr of age.
See this image and copyright information in PMC

References

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    1. Seckel HPG. Bird Headed Dwarfs. Basel and New York: S. Karger; 1960.

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