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Showing papers by "Arleen D. Auerbach published in 1991"


Journal ArticleDOI
TL;DR: Fanconi anemia (FA) is an autosomal recessive disorder characterized clinically by a progressive pancytopenia, diverse congenital abnormalities, and increased predisposition to malignancy as discussed by the authors.

240 citations


Journal ArticleDOI
TL;DR: Seven of the FA patients who had pregnancies died subsequently from cancer, and two from thrombocytopenic bleeding 3 and 20 years later, and there were no peripartum deaths.
Abstract: We have identified six new cases of Fanconi's anaemia (FA) who had pregnancies, and reviewed 11 others from the literature. At least 110 FA females have reached 16 years of age or more, of whom 15% became pregnant. There were a total of 26 pregnancies, resulting in 19 births and 18 surviving children. Anaemia and/or thrombocytopenia worsened during pregnancy in 10 patients, but five subsequently improved: seven had no haematological problems. Seven of the FA patients who had pregnancies died subsequently from cancer, and two from thrombocytopenic bleeding 3 and 20 years later. There were no peripartum deaths. Pregnancy in FA is clearly possible, with increased risks that are manageable from both the haematological and the obstetric aspects.

71 citations


Journal ArticleDOI
01 Feb 1991-Genomics
TL;DR: The results of a genetic linkage study involving 34 families enrolled in the International Fanconi Anemia Registry support the provisional assignment of a Fanconi anemia gene to chromosome 20q.

49 citations



Journal ArticleDOI
TL;DR: Fetal cell DNA amplification and hybridization for DQ typing can be an important adjunct procedure to verify serologically determined HLA class II types and/or to establish class II haplotype identity with the affected sibling.

3 citations