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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret
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Familial monosomy 7 syndrome


Other namesFamilial leukemia or MDS associated with monosomy 7
Note Monosomy 7 is seen in a variety of hematologic disorders:
  • 1- de novo myelodysplastic disorders (MDS) and ANLL
  • 2- Therapy-related MDS and ANLL
  • 3- Childhood myeloproliferative /myelodysplastic disorder commonly referred to as the childhood monosomy 7 syndrome, which is associated with a subset of juvenile myelomonocytic leukemia (JMML, JCML).
  • 4- MDS or ANLL associated with constitutional predispositions to myeloid leukemia including Fanconi anemia, congenital neutropenia, and neurofibromatosis type 1.
  • 5- Familial monosomy 7 syndrome- Rare familial cases of MDS or ANLL associated with either complete or partial monosomy 7 have been reported in 12 pedigrees.
  • Inheritance In some pedigrees the pattern of involvement is compatible with an autosomal dominant inheritance pattern with incomplete penetrance.


    Phenotype and clinics
  • Disease: Hematologic disorder characterized by either marrow aplasia, dysplasia, or frank acute myeloid leukemia occurring in at least two siblings associated with either partial or complete loss of chromosome 7. The majority of reported cases of familial monosomy 7 present at an early age (20 out of 24 cases before age 20 years) with either MDS or ANLL.
  • Phenotype/cell of origin: Multipotential progenitor cell.
  • Epidemiology: There is an even male to female distribution. Median age at presentation age 8 years although adult presentations also have been reported.
  • Clinical features: The disease in some cases appears to associated with other mendelian disorders including probable Noonan's syndrome, cerebellar ataxia/atrophy, and Fanconi's anemia (monosomy 7 is also common in non-familial cases of MDS/ANLL arising in Fanconi's anemia and other contitutional disorders). Cytopenias and myelodysplasia in non-leukemic family members is common.
  • Pathology: The pathology is typical of MDS and ANLL.
  • Treatment The number of reported cases makes it difficult to draw conclusions about appropriate therapy. Allogeneic transplantation from a related sibling is problematic because of the familial predisposition to hematologic malignancies.
    Prognosis The prognosis is poor. Nearly all reported patients have died of their disease.


    Note Complete or partial monosomy may be associated with other abnormalities including +8, 5q-, and t(1;7). Of the 12 reported cases, the lost chromosome 7 was shown to be of different parental origin in two.

    Genes involved and Proteins

    Note The available data suggest that the monosomy 7 contributes to oncogenesis by reduced gene dosage. Studies showing different parental origin of the deleted chromosome argue against a possible tumor suppressor mutated on the retained chromosome. It has been proposed that the susceptibility locus or loci located on other chromosomes acts as a mutator that promotes chromosomal instability. In some pedigrees the pattern of involvement is compatible with an autosomal dominant inheritance pattern with incomplete penetrance.


    Two autopsy cases of atypical myeloproliferative disorder with group C monosomy occurring in siblings.
    Kamiyama R, Shibata T, Mori W
    Acta pathologica japonica. 1973 ; 23 (4) : 815-835.
    PMID 4801711
    Ataxia-pancytopenia: syndrome of cerebellar ataxia, hypoplastic anemia, monosomy 7, and acute myelogenous leukemia.
    Li FP, Hecht F, Kaiser-McCaw B, Baranko PV, Potter NU
    Cancer genetics and cytogenetics. 1981 ; 4 (3) : 189-196.
    PMID 6947857
    Familial leukemia and aplastic anemia associated with monosomy 7.
    Chitambar CR, Robinson WA, Glode LM
    The American journal of medicine. 1983 ; 75 (5) : 756-762.
    PMID 6638045
    Transformation of Fanconi's anemia to acute nonlymphocytic leukemia associated with emergence of monosomy 7.
    Stivrins TJ, Davis RB, Sanger W, Fritz J, Purtilo DT
    Blood. 1984 ; 64 (1) : 173-176.
    PMID 6733270
    Familial bone marrow monosomy 7. Evidence that the predisposing locus is not on the long arm of chromosome 7.
    Shannon KM, Turhan AG, Chang SS, Bowcock AM, Rogers PC, Carroll WL, Cowan MJ, Glader BE, Eaves CJ, Eaves AC
    The Journal of clinical investigation. 1989 ; 84 (3) : 984-989.
    PMID 2569483
    Evidence implicating heterozygous deletion of chromosome 7 in the pathogenesis of familial leukemia associated with monosomy 7.
    Shannon KM, Turhan AG, Rogers PC, Kan YW
    Genomics. 1992 ; 14 (1) : 121-125.
    PMID 1358790
    Childhood monosomy 7: epidemiology, biology, and mechanistic implications.
    Luna-Fineman S, Shannon KM, Lange BJ
    Blood. 1995 ; 85 (8) : 1985-1999.
    PMID 7718870
    Myelodysplastic syndrome, juvenile myelomonocytic leukemia, and acute myeloid leukemia associated with complete or partial monosomy 7. European Working Group on MDS in Childhood (EWOG-MDS).
    Hasle H, Aricˆ¾ M, Basso G, Biondi A, Cantˆ¼ Rajnoldi A, Creutzig U, Fenu S, Fonatsch C, Haas OA, Harbott J, Kardos G, Kerndrup G, Mann G, Niemeyer CM, Ptoszkova H, Ritter J, Slater R, Starˆ‡ J, Stollmann-Gibbels B, Testi AM, van Wering ER, Zimmermann M
    Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1999 ; 13 (3) : 376-385.
    PMID 10086728
    Familial acute myeloid leukemia with monosomy 7: late onset and involvement of a multipotential progenitor cell.
    Kwong YL, Ng MH, Ma SK
    Cancer genetics and cytogenetics. 2000 ; 116 (2) : 170-173.
    PMID 10640152
    Familial partial monosomy 7 and myelodysplasia: different parental origin of the monosomy 7 suggests action of a mutator gene.
    Minelli A, Maserati E, Giudici G, Tosi S, Olivieri C, Bonvini L, De Filippi P, Biondi A, Lo Curto F, Pasquali F, Danesino C
    Cancer genetics and cytogenetics. 2001 ; 124 (2) : 147-151.
    PMID 11172908
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    Written07-2001Jay L. Hess


    This paper should be referenced as such :
    Hess, JL
    Familial monosomy 7 syndrome
    Atlas Genet Cytogenet Oncol Haematol. 2001;5(3):220-221.
    Free journal version : [ pdf ]   [ DOI ]
    URL :

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