Abstract
Partial 22q trisomy syndrome has been well documented with the frequently occurring features of growth retardation, hypertelorism, coloboma of iris (Cat's eye), preauricular skin tags and sinuses, dysplastic low set ears, congenital heart disease, anal atresia, renal anomalies, agenesis of corpus callosum and of cerebellar vermis, mental retardation and hypotonia or hypertonia.
We report an infant with a karyotype of 47XY + del (22)(q12) born to a mother with 46,XX,t(11:22)(q23;q12) with two additional features: cerebellar agenesis and hemifacial microsomia. The latter features have not been described previously in partial 22q trisomy.
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Chitayat, D., Furman, N., Milbauer, B. et al. 807 CEREBELLAR AGENESIS AND HEMIFACIAL MICROSOMIA IN AN INFANT WITH 22q PARTIAL TRISOMY SYNDROME. Pediatr Res 19, 245 (1985). https://doi.org/10.1203/00006450-198504000-00837
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DOI: https://doi.org/10.1203/00006450-198504000-00837
