Gene Technology

Abstract

A Unique Case of Gorlin-Goltz Syndrome with Associated Soto Syndrome: A Review Article

Jeevan Lata, Jaspreet Kaur, Jayant Marya

Gorlin Goltz syndrome is a hereditary condition, with complete penetrance and variable expressivity characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. Soto syndrome is another hereditary syndrome with variable features. Clinical diagnosis of such syndromes relies on specific criteria. Gene mutation analysis confirms the diagnosis and genetic counseling is mandatory. Antenatal diagnosis is feasible by means of ultrasound scans and analysis of DNA extracted from fetal cells. This review considers the importance of genetic aspect of above said syndromes and how they can impact the treatment plan and follow up considerations of individuals suffering from these syndromes

Published Date: 2020-12-25; Received Date: 2020-12-04