Dominantly transmitted hematologic dysfunction clinically similar to fanconi's anemia

Carol L. Alter, Paul H. Levine, John Bennett, Craig Kessler, Margaret Rick, Ronald G. Washburn, John I. Gallin, Robert W. Miller, Arleen D. Auerbach

Research output: Contribution to journalArticlepeer-review

Abstract

We report a family with a dominantly transmitted syndrome resembling Fanconi's anemia and spanning two generations. This syndrome was characterized by an ill‐defined hematologic stem cell disorder, immune dysfunction, poor dentition, hyperpigmented skin, warts, and multiple second trimester spontaneous abortions and included one case of acute myelomonocytic leukemia (acute non‐lymphocytic leukemia, M4). This family lacks the characteristic chromosomal aberrations of Fanconi's anemia. We believe this constellation of findings represents an entity not previously described.

Original languageEnglish (US)
Pages (from-to)241-247
Number of pages7
JournalAmerican journal of hematology
Volume32
Issue number4
DOIs
StatePublished - Dec 1989

Keywords

  • dominant
  • genetic hematologic dysfunction
  • immunodeficiency

ASJC Scopus subject areas

  • Hematology

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