Duplication 6q

Trisomy of the long arm of chromosome 6 is characterized by minor dysmorphic features in infancy with development of tur-ricephaly and a prominent forehead with or without microcephaly in childhood. The neck is broad, short, and webbed. The nipples are wide spaced with deformities of the chest and spine; joint contractures are common. Hypospadius and cryp-torchidism may also be evident. Ophthalmic features include downward slanting of the palpebral fissures, epicanthus, hyper-telorism, blepharoptosis, strabismus, hypoplastic supraorbital ridges, and thin, arched eyebrows.50,55,350,355

Was this article helpful?

0 0

Post a comment