Utility of Chromosomal Microarray in Children with Unexplained Developmental Delay/Intellectual Disability.

Conclusions: In our study, 20.9% of children with GDD/ID showed pCNVs on CMA. Cardiac defect alongside GDD/ID, emerged as the single strongest phenotype associated with pCNVs. CMA also provided vital information in previously karyotyped patients. PMID: 32701375 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/32701375?dopt=Abstract

Source: Fetal and Pediatric Pathology - July 25, 2020 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research