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.
引用
收藏
页码：38 / 41
页数：4
相关论文
共 50 条
  • [41] Companies experience mixed 1Q earnings
    Official Board Markets, 2002, 78 (17):
  • [42] PARTIAL TRISOMY 1Q IN 3 PATIENTS
    SANGER, R
    ALFI, O
    DONNELL, G
    AMERICAN JOURNAL OF HUMAN GENETICS, 1974, 26 (06) : A75 - A75
  • [43] A 46, XY, dup (1) (q21q32), add(11) (q23) karyotype in a case of Fanconi anemia
    Rao, VB
    Kerketta, L
    Ghosh, K
    Mohanty, D
    LEUKEMIA RESEARCH, 2001, 25 (04) : 347 - 348
  • [44] Translocation t(1;21)(p36;q22) in a child with fanconi anemia
    Sendi, HS
    Elghezal, H
    Gribaa, M
    Meddeb, B
    Ben Abid, H
    Hafsia, A
    Saad, A
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2002, 10 : 100 - 100
  • [45] ConocoPhillips reports 1Q earnings gains
    Snow, Nick
    OIL & GAS JOURNAL, 2019, 117 (05) : 34 - 35
  • [46] NEUROLOGICAL ASPECTS OF DEL(1Q) SYNDROME
    MURAYAMA, K
    GREENWOOD, RS
    RAO, KW
    AYLSWORTH, AS
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 40 (04): : 488 - 492
  • [47] +1q: amplifying the bad genes in myeloma
    Chakraborty, Rajshekhar
    Gertz, Morie A.
    LEUKEMIA & LYMPHOMA, 2017, 58 (08) : 1771 - 1773
  • [48] Deletion of 1q in a patient with acrofacial dysostosis
    Waggoner, DJ
    Ciske, DJ
    Dowton, SB
    Watson, MS
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1999, 82 (04): : 301 - 304
  • [49] A TRIPLOIDY 1Q IN AN AMNIOTIC-FLUID
    COHEN, M
    ENDREYWALDER, S
    COHEN, G
    MCBRIDE, W
    AUSTRALIAN PAEDIATRIC JOURNAL, 1985, 21 (04): : 307 - 307
  • [50] TRISOMY 1Q AS A TISSUE SPECIFIC MOSAIC
    KORNER, H
    SCHROCK, E
    SIEBKE, K
    GROSCHKE, U
    ZEITSCHRIFT FUR KLINISCHE MEDIZIN-ZKM, 1991, 46 (06): : 417 - 419
12345