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11q- syndrome


11q- Syndrome 353b12d 353b12d 353b12d 353b12d 353b12d 353b12d

General: Chromosome II deletion syndrome.

Ocular: Telecanthus/hypertelorism; rarely, congenital glaucoma, cyclopia.

Clinical: Psychomotor retardation, trigonocephaly, broad depressed nasal bridge, micrognathia, low-set abnormal ears, cardiac anomalies, hand and foot anomalies, renal agenesis, anal atresia, supratentorial white matter abnormality on computed tomography or magnetic resonance imaging; microphallus; holoprosencephaly; female preponderance.

Helmuth RA, Weaver DD, Wills ER. Holoprosencephaly, ear abnormalities, congenital heart defect, and microphallus in a patient with 11q- mosaicism. Am J Med Genet 1989; 32:178-l81.

Ishida Y, et al. The 11q- syndrome with mosaic partial deletion of 11q. Acta Paediatr Jpn 1992; 34:592-596.

Leegte B, et al. 11q- syndrome: three cases and a review of the literature. Genet Couns 1999; 10:305-313.




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