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Studies of malformation syndromes of man XL VII: Disappearance of spermatogonia in the fanconi anemia syndrome

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Abstract

A 15 year old boy with the Fanconi malformation-aplastic anemia syndrome developed erythroleukemia and died of multiple arterial thromboses and hemorrhage. He was one of 10 siblings including 3 affected sisters. He was short of stature and had hypoplastic thumbs; his testes were small and secondary sexual characteristics were inadequately developed. At autopsy he was found to have very few spermatogonia, i.e., a histological picture compatible with the “Sertoli-cell-only” defect. Male hypogonadism in other chromosome breakage syndromes (the Bloom syndrome and ataxia telangiectasia) may have a similar pathogenesis.

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Authors and Affiliations

  1. Departments of Pediatrics and Pathology, University of Wisconsip Center for Health Sciences, 53706, Madison, Wisconsin, USA

    Gerald J. Bargman, Nasrollah T. Shahidi & Enid F. Gilbert

  2. Wisconsir Clinical Genetics Center of the Department of Medical Genetics, University of Wisconsip Center for Health Sciences and Medical School, 53706, Madison, Wisconsin, USA

    John M. Opitz

Authors
  1. Gerald J. Bargman
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  2. Nasrollah T. Shahidi
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  3. Enid F. Gilbert
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  4. John M. Opitz
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Additional information

Supported, in part, by DHEW/USPH Grant GM 20130 from the National Institute of General Medical Sciences. Paper No. 2088 from the Laboratory of Genetics, University of Wisconsin, Madison, WI 53706, USA

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Bargman, G.J., Shahidi, N.T., Gilbert, E.F. et al. Studies of malformation syndromes of man XL VII: Disappearance of spermatogonia in the fanconi anemia syndrome. Eur J Pediatr 125, 163–168 (1977). https://doi.org/10.1007/BF00480592

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  • DOI: https://doi.org/10.1007/BF00480592

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