Cristina Gervasini

TL;DR: It is reported here that mutations in SMC1L1 (also known asSMC1), which encodes a different subunit of the cohesin complex, are responsible for CdLS in three male members of an affected family and in one sporadic case.

TL;DR: Two patients affected by MRKH syndrome are reported on in which array-CGH analysis disclosed an identical deletion spanning 1.5 Mb of genomic DNA at chromosome 17q12, which is a rare albeit recurrent anomaly mediated by segmental duplications, previously reported in subjects with developmental kidney abnormalities and diabetes.

TL;DR: The clinical features and details progress to date in understanding the genetics of MRKH syndrome are discussed, which appears to demonstrate an autosomal dominant inheritance pattern, with incomplete penetrance and variable expressivity.

TL;DR: The proposed score seems to be a valuable means of prioritizing the patients with CdLS to undergo an NIPBL mutation test, and the statistically significant differences between the mutation‐positive and mutation‐negative individuals were pre‐ and post‐natal growth deficits, limb reduction, and delayed speech development.

TL;DR: The clinical features and genetic basis of Rubinstein-Taybi syndrome have been summarized and areas for future studies on an appropriate diagnostic protocol and follow-up care for RSTS are highlighted for better understanding of this disease, establishing standard diagnostic criteria, and providing professional management and follow up care.