Triplication of 1q in Fanconi anemia

被引：4
|
作者：
Ferro, MT
Vazquez-Mazariego, Y
Ramiro, S
Sanchez-Hombre, MC
Villalon, C
Garcia-Sagredo, JM
Ulibarrena, C
Sastre, JL
San Roman, C
机构：
[1] Univ Madrid, Hosp Ramon y Cajal, Dept Med Genet, E-28034 Madrid, Spain
[2] Complejo Hosp Cristal Pinor, Dept Haematol, Orense, Spain
来源：
CANCER GENETICS AND CYTOGENETICS | 2001年 / 127卷 / 01期
关键词：
D O I：
10.1016/S0165-4608(00)00415-5
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
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. (C) 2001 Elsevier Science Inc. All rights reserved.
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收藏
页码：38 / 41
页数：4
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