Trisomy 6q Syndrome (Duplication 6q+6q Syndrome)
General: Chromosome 6q trisomy syndrome.
Ocular: Hypertelorism; mongoloid (down-slanting) palpebral fissures.
Clinical: Cleft soft palate; bow-shaped mouth; micrognathia; short, laterally webbed neck; microcephaly; clubbing of hands and feet; syndactyly; growth retardation; mental retardation; 'carp' mouth.
Chen H, et al. Familial partial trisomy 6q syndromes resulting from inherited ins (5;6) (q33; q15q27). Clin Genet 1976; 9:631-637.
Franchino CJ, et al. Partial trisomy 6q: case report with necropsy findings. J Med Genet 1987; 24:300-303.
Zneimer SM. Zeil B, Bachman R. Partial trisomy of chromosome 6q: an interstitial duplication of the long arm. Am J Med Genet 1998; 80:133-l35.
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