Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review

Monosomy 7 Predisposition Syndromes Overview

Timothy S Olson  1 , Kathryn E Dickerson  2 , Taizo A Nakano  3 , Marcin Wlodarski  4   5
Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
.
Affiliations
Review

Monosomy 7 Predisposition Syndromes Overview

Timothy S Olson et al.

Excerpt

The purpose of this overview is to:

  1. 1

    Describe the clinical characteristics of monosomy 7 predisposition syndromes;

  2. 2

    Review the genetic causes of monosomy 7 predisposition;

  3. 3

    Provide an evaluation strategy to identify the genetic cause of monosomy 7 predisposition in a proband (when possible);

  4. 4

    Review the differential diagnosis of monosomy 7 predisposition syndromes;

  5. 5

    Inform (when possible) medical management of monosomy 7 predisposition syndromes;

  6. 6

    Provide a basic view of genetic risk assessment of at-risk asymptomatic relatives of a proband with a monosomy 7 predisposition syndrome to inform surveillance and to allow early diagnosis so that definitive therapy with bone marrow transplantation can be initiated prior to the emergence of a leukemic clone.

PubMed Disclaimer

References

    1. Aktas D, Koc A, Boduroglu K, Hicsonmez G, Tuncbilek E. Myelodysplastic syndrome associated with monosomy 7 in a child with Bloom syndrome. Cancer Genet Cytogenet. 2000;116: 44-6. - PubMed
    1. Araten DJ, Swirsky D, Karadimitris A, Notaro R, Nafa K, Bessler M, Thaler HT, Castro-Malaspina H, Childs BH, Boulad F, Weiss M, Anagnostopoulos N, Kutlar A, Savage DG, Maziarz RT, Jhanwar S, Luzzatto L. Cytogenetic and morphological abnormalities in paroxysmal nocturnal haemoglobinuria. Br J Haematol. 2001;115:360-8. - PubMed
    1. Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, Bloomfield CD, Cazzola M, Vardiman JW. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016;127:2391-405. - PubMed
    1. Babushok DV, Bessler M, Olson TS. Genetic predisposition to myelodysplastic syndrome and acute myeloid leukemia in children and young adults. Leuk Lymphoma. 2016;57:520-36. - PMC - PubMed
    1. Bluteau O, Sebert M, Leblanc T, Peffault de Latour R, Quentin S, Lainey E, Hernandez L, Dalle JH, Sicre de Fontbrune F, Lengline E, Itzykson R, Clappier E, Boissel N, Vasquez N, Da Costa M, Masliah-Planchon J, Cuccuini W, Raimbault A, De Jaegere L, Adès L, Fenaux P, Maury S, Schmitt C, Muller M, Domenech C, Blin N, Bruno B, Pellier I, Hunault M, Blanche S, Petit A, Leverger G, Michel G, Bertrand Y, Baruchel A, Socié G, Soulier J. A landscape of germ line mutations in a cohort of inherited bone marrow failure patients. Blood. 2018;131:717-32. - PubMed