11q- Syndrome
11q- Syndrome
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; 32:178-181.
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.
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; 32:178-181.
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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