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

doi:10.1002/ajh.2830320402

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 journal › Article › peer-review

1 Scopus citations

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 language	English (US)
Pages (from-to)	241-247
Number of pages	7
Journal	American journal of hematology
Volume	32
Issue number	4
DOIs	https://doi.org/10.1002/ajh.2830320402
State	Published - Dec 1989
Externally published	Yes

Keywords

dominant
genetic hematologic dysfunction
immunodeficiency

ASJC Scopus subject areas

Hematology

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10.1002/ajh.2830320402

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title = "Dominantly transmitted hematologic dysfunction clinically similar to fanconi's anemia",

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.",

keywords = "dominant, genetic hematologic dysfunction, immunodeficiency",

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

year = "1989",

month = dec,

doi = "10.1002/ajh.2830320402",

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pages = "241--247",

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T1 - Dominantly transmitted hematologic dysfunction clinically similar to fanconi's anemia

AU - Alter, Carol L.

AU - Levine, Paul H.

AU - Bennett, John

AU - Kessler, Craig

AU - Rick, Margaret

AU - Washburn, Ronald G.

AU - Gallin, John I.

AU - Miller, Robert W.

AU - Auerbach, Arleen D.

PY - 1989/12

Y1 - 1989/12

N2 - 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.

AB - 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.

KW - dominant

KW - genetic hematologic dysfunction

KW - immunodeficiency

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SN - 0361-8609

VL - 32

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JO - American journal of hematology

JF - American journal of hematology

IS - 4

ER -

Dominantly transmitted hematologic dysfunction clinically similar to fanconi's anemia

Abstract

Keywords

ASJC Scopus subject areas

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