Abstract
We have seen two unrelated cases of Trisomy 13 mosaicism with the main presenting symptom of severe bilateral deafness and microtia respectively. To our knowledge such a presentation of Trisomy 13 mosaicism has not been reported previously. Although the clinical symptoms of Trisomy 13 mosaics are variable, mental retardation and cleft palate are the most frequent findings. The first case was a 10 year old mentally retarded male with severe bilateral deafness, duplication of the ureters and a port wine nevus. The second case presented with a right sided microtia, a heart murmur and bilateral simian creases. His psychomotor development at 6 months was normal. Chromosome analysis from the peripheral blood lymphocytes culture revealed in both cases Trisomy 13 in 15% of cells. Our experience indicates that the diagnosis of Trisomy 13 mosaicism should be considered in children with deafness or microtia associated with minor malformations.
Sign-in/Register to access full text options 
Free) 
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 call
