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A Chromosomal Duplication Map of Malformations: Regions of Suspected Haplo- and Triplolethality—and Tolerance of Segmental Aneuploidy—in Humans  Carole.

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Presentation on theme: "A Chromosomal Duplication Map of Malformations: Regions of Suspected Haplo- and Triplolethality—and Tolerance of Segmental Aneuploidy—in Humans  Carole."— Presentation transcript:

1 A Chromosomal Duplication Map of Malformations: Regions of Suspected Haplo- and Triplolethality—and Tolerance of Segmental Aneuploidy—in Humans  Carole Brewer, Susan Holloway, Paul Zawalnyski, Albert Schinzel, David FitzPatrick  The American Journal of Human Genetics  Volume 64, Issue 6, Pages (June 1999) DOI: /302410 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Diagrammatic representation of G-banded autosomal karyotype, indicating locations of band duplications significantly associated with malformations The American Journal of Human Genetics  , DOI: ( /302410) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Distribution of sizes of all simple autosomal deletions and duplications contained in the Human Cytogenetics Database (see Schinzel 1994). Sizes are expressed as percentage of HAL. The unbroken line represents deletions; the broken line represents duplications. The American Journal of Human Genetics  , DOI: ( /302410) Copyright © 1999 The American Society of Human Genetics Terms and Conditions


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