Two different karyotypes with 1q abnormalities in a patient with Fanconi anemia

Oliveira, Neide I.S.S; Ribeiro, Enilze M.S.F; Raimondi, Susana C; Bittencourt, Marco A; Pasquini, Ricardo; Cavalli, Iglenir J

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Volume 26, Issue 11 , Pages 1047-1049, November 2002

Two different karyotypes with 1q abnormalities in a patient with Fanconi anemia

Neide I.S.S Oliveira
- Laboratório de Citogenética Humana, Departamento de Genética, Universidade Federal do Paraná (UFPR), Caixa Postal 19071, CEP 81531-970, Curitiba, Paraná, Brazil
Enilze M.S.F Ribeiro
- Laboratório de Citogenética Humana, Departamento de Genética, Universidade Federal do Paraná (UFPR), Caixa Postal 19071, CEP 81531-970, Curitiba, Paraná, Brazil
Susana C Raimondi
- Cytogenetics Laboratory, Department of Pathology, St. Jude Children’s Research Hospital, Memphis, TN, USA
Marco A Bittencourt
- Serviço de Transplante de Medula Óssea, Hospital de Clı́nicas, UFPR, Curitiba, Paraná, Brazil
Ricardo Pasquini
- Serviço de Transplante de Medula Óssea, Hospital de Clı́nicas, UFPR, Curitiba, Paraná, Brazil
Iglenir J Cavalli
- Laboratório de Citogenética Humana, Departamento de Genética, Universidade Federal do Paraná (UFPR), Caixa Postal 19071, CEP 81531-970, Curitiba, Paraná, Brazil
- Corresponding author. Tel.: +55-41-266-2042; fax: +55-41-266-2042.

Received 23 October 2001; accepted 6 February 2002.

Abstract

We report a case of Fanconi anemia in which cytogenetic analysis of bone marrow (BM) samples revealed two distinct karyotypes: 46,XY,dup(1)(q21q42), in the first sample and 46,XY,del(1)(q32) in the second, aspirated 7 months later after acute myeloid leukemia (AML) developed. We discuss the cytogenetic clonal fluctuation common in Fanconi anemia, with the Fanconi’s anemia (FA) reports available in the literature. Interestingly, we have identified that del(1)(q32) has not been reported before in FA.

Keywords: Fanconi anemia, Duplication, Deletion, 1q