Small duplication of chromosome (7)(p22.1p22.2) and consideration of a dup 7p syndrome critical region.

摘要

Duplication 7p is a rare chromosomal disorder with a well-defined pattern of abnormalities characterized by developmental, craniofacial, skeletal, cardiovascular, genital, and ocular abnormalities, (Milunsky et al., 1989; Reish a a/., 1996; Papadopoulou eta/., 2006). A review of all published cases of trisomy 7p suggests a distinct pattern of abnormalities (Reish et al, 1996; Cai et al, 1999; Kozma et al., 2000). At least one-third of affected individuals died in infancy and almost half had severe cognitive disabilities (Kozma et al, 2000).