Higher CNV frequencies in Chromsome-14 of girls with Turner syndrome phenotype - A chromosomal microarray study

CONCLUSIONS: On high resolution karyotype analysis, clinical phenotype of TS could be found associated with CNV defects in autosomes (specifically Chr. 14,) or X chromosome or both. The syndrome of chromosome 14 CNVs defects with and without X-chromosomal defects clinically mimics TS and shares a common genomic network deserves further investigations.PMID:34333639 | DOI:10.1210/clinem/dgab572

Source: The Journal of Clinical Endocrinology and Metabolism - August 1, 2021 Category: Endocrinology Authors: Naincy Purwar Pradeep Tiwari Nitish Mathur Himanshu Sharma Rahul Sahlot Umesh Garg Balram Sharma Aditya Saxena Sandeep K Mathur Source Type: research