New findings in partial trisomy 16q: clinical report

Acta Paediatrica
B SousaH Guimarães

Abstract

Partial trisomy 16q is a rare disorder associated with significant dysmorphism, psychomotor retardation and limited postnatal survival. A female infant with a partial trisomy 16q from a de novo translocation 11;16 is described. Clinical findings were consistent with previous reports, with the exceptions of megalocornea, partial callosal agenesis and mild bilateral occipital lobe hypoplasia. Based on this clinical report, megalocornea, partial callosal agenesis and mild bilateral occipital lobe hypoplasia should perhaps be included in the list of anomalies associated with partial trisomy 16q.

References

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Citations

Aug 13, 2011·American Journal of Medical Genetics. Part a·Audrey BasinkoMarc De Braekeleer
Jul 17, 2010·American Journal of Medical Genetics. Part a·Acácia Fernandes Lacerda de CarvalhoMaria Isabel Melaragno
Feb 23, 2012·American Journal of Medical Genetics. Part a·Ana C LausLucia Martelli
Aug 12, 2014·American Journal of Medical Genetics. Part a·Marzena KucharczykMałgorzata Krajewska-Walasek
Jun 2, 2021·American Journal of Medical Genetics. Part a·Joshua ManorSeema R Lalani

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