Article
Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals.
American journal of medical genetics. Part A - 1 Sept 2010
Sebold Courtney, Roeder Elizabeth, Zimmerman Marsha, Soileau Bridgette, Heard Patricia, Carter Erika, Schatz Martha, White W Abraham, Perry Brian, Reinker Kent, O'Donnell Louise, Lancaster Jack, Li John, Hasi Minire, Hill Annice, Pankratz Lauren, Hale Daniel E, Cody Jannine D
Abstract excerpt
Thus far, the phenotype of tetrasomy 18p has been primarily delineated by published case series and reports. Findings reported in more than 25% of these cases include neonatal feeding problems, growth retardation, microcephaly, strabismus, muscle tone abnormalities, scoliosis/kyphosis, and variants on brain MRI. Developmental delays and cognitive impairment are universally present. The purpose of this study was...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.