Article
Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.
Pediatrics - 1 Feb 2008
Battaglia Agatino, Hoyme H Eugene, Dallapiccola Bruno, Zackai Elaine, Hudgins Louanne, McDonald-McGinn Donna, Bahi-Buisson Nadia, Romano Corrado, Williams Charles A, Brailey Lisa L, Braley Lisa L, Zuberi Sameer M, Carey John C
Abstract excerpt
OBJECTIVES: Deletion 1p36 syndrome is a recently delineated disorder, considered to be the most common subtelomeric microdeletion syndrome (1 in 5000 newborns). 1p36.3 deletions account for 0.5% to 1.2% of idiopathic mental retardation; thus, knowledge about the condition is important for pediatricians caring for such patients. Despite 100 reported cases, little is known about its natural history. Our aim was to...
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