Article
Consequences of chromsome18q deletions.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Sept 2015
Cody Jannine D, Sebold Courtney, Heard Patricia, Carter Erika, Soileau Bridgette, Hasi-Zogaj Minire, Hill Annice, Rupert David, Perry Brian, O'Donnell Louise, Gelfond Jon, Lancaster Jack, Fox Peter T, Hale Daniel E
Abstract excerpt
Providing clinically relevant prognoses and treatment information for people with a chromsome18q deletion is particularly challenging because every unrelated person has a unique region of hemizygosity. The hemizygous region can involve almost any region of 18q including between 1 and 101 genes (30 Mb of DNA). Most individuals have terminal deletions, but in our cohort of over 350 individuals 23% have interstitial...
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