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.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
