Duplication 14q Syndrome
Duplication 14q Syndrome
General: Chromosomal 14q duplication syndrome.
Ocular: Hypertelorism; sparse eyelashes and eyebrows; slanted palpebral fissures; ocular colobomata.
Clinical: Postnatal growth retardation; mental retardation; hypotonia; microcephaly; nasal dysmorphism; tented lip; micrognathia; posteriorly rotated ears; minor skeletal anomalies.
Onwochei BC, et al. Ocular colobomata: major review. Surv Ophthalmol 2000; 45:175-194.
Sklower SL, et al. Distal duplication 14q: report of three cases and further delineation of the syndrome. Hum Genet 1984; 68:159-164.
General: Chromosomal 14q duplication syndrome.
Ocular: Hypertelorism; sparse eyelashes and eyebrows; slanted palpebral fissures; ocular colobomata.
Clinical: Postnatal growth retardation; mental retardation; hypotonia; microcephaly; nasal dysmorphism; tented lip; micrognathia; posteriorly rotated ears; minor skeletal anomalies.
Onwochei BC, et al. Ocular colobomata: major review. Surv Ophthalmol 2000; 45:175-194.
Sklower SL, et al. Distal duplication 14q: report of three cases and further delineation of the syndrome. Hum Genet 1984; 68:159-164.
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