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Mosaic Trisomy 22 Case Study Review by dad dzd ada is a document available to read on EtoBox.
This document presents a case study of a child with mosaic trisomy 22. The child showed signs of growth retardation, developmental delays, and minor physical anomalies. Initial chromosome analysis of lymphocytes was normal, but mosaicism was suspected due to clinical features and confirmed in cultured fibroblasts. Molecular studies showed the child had maternal uniparental disomy in the disomic cells. The phenotype of mosaic trisomy 22 overlaps with both non-mosaic trisomy 22 and Ullrich-Turner syndrome. Im
- Author
- dad dzd ada
- Language
- EN