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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
Free Books & Documents
Review

Monosomy 7 Predisposition Syndromes Overview

Timothy S Olson et al.
Free Books & Documents

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.

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