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Partial trisomy 16q syndrome


Partial Trisomy 16q Syndrome 343d39d 343d39d 343d39d 343d39d 343d39d

General: Partial trisomy 16q with chromosome banding; rare.

Ocular: Narrow palpebral fissures; antimongoloid lid slant; hypertelorism; strabismus; epicanthus; congenital glaucoma; corneal edema; shallow anterior chamber; Rieger anomaly.

Clinical: Dry skin; periorbital edema; hydrocele; general hypotonia; low-set ears; micrognathia; hypoplastic lower lip; long philtrum; stumpy hands with short fingers; pectus excavatum.

Balestrazzi P, et al. Partial trisomy 16q resulting from maternal translocation. Hum Genet 1979; 49:229-235.

Ferguson JG, et al. Rieger's anomaly and glaucoma associated with partial trisomy 16q. Arch Ophthalmol 1987; 105:323.




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