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Article

Narrowing critical regions and determining penetrance for selected 18q- phenotypes.

American journal of medical genetics. Part A - 1 Jul 2009

Cody Jannine D, Heard Patricia L, Crandall Analisa C, Carter Erika M, Li John, Hardies L Jean, Lancaster Jack, Perry Brian, Stratton Robert F, Sebold Courtney, Schaub Rebecca L, Soileau Bridgette, Hill Annice, Hasi Minire, Fox Peter T, Hale Daniel E

Abstract excerpt

One of our primary goals is to help families who have a child with an 18q deletion anticipate medical issues in order to optimize their child's medical care. To this end we have narrowed the critical regions for four phenotypic features and determined the penetrance for each of those phenotypes when the critical region for that feature is hemizygous. We completed molecular analysis using oligo-array CGH and...

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Identifiers

PMID: 19533771
DOI: 10.1002/ajmg.a.32899
PMCID: PMC5325704

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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