Title of article
Triplication of 1q in Fanconi anemia
Author/Authors
Ferro، نويسنده , , M.Teresa and Vazquez-Mazariego، نويسنده , , Yolanda and Ramiro، نويسنده , , Soraya and Sanchez-Hombre، نويسنده , , M.Carmen and Villalon، نويسنده , , Concepcion and Garcia-Sagredo، نويسنده , , Jose M and Ulibarrena، نويسنده , , Carlos and Sastre، نويسنده , , Jose L and Roman، نويسنده , , Carlos San، نويسنده ,
Issue Information
روزنامه با شماره پیاپی سال 2001
Pages
4
From page
38
To page
41
Abstract
We report herein a 38-year-old male patient with Fanconi anemia but with few phenotypic manifestations—short stature, sterility, and hypoplasic anemia with several years of evolution—who developed a myelodysplastic syndrome (MDS). Bone marrow karyotype showed long arm triplication of chromosome 1 (q12–21q31–q32), and two markers add(11)(p15) and add(21)(q22) which had extra material of chromosome 3 besides the normal chromosome 3 pair. Peripheral blood showed chromosome instability; SCE was normal. Both the patient and his family showed a high prevalence of malignant diseases. 1q duplication and, in a few cases, triplication of 1q has been related to Fanconi anemia, being of unknown significance.
Journal title
Cancer Genetics and Cytogenetics
Serial Year
2001
Journal title
Cancer Genetics and Cytogenetics
Record number
1823617
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