Genetic Techniques in the Evaluation of Short Stature.

Christopher J Romero, Lakshmi Mehta, Robert Rapaport

Journal: Endocrinology and metabolism clinics of North America 2018;45(2):345-58

PMID: 27241969

Full Text on Elsevier Science View on PubMed

Abstract

Normal growth is a complex dynamic process dependent on the coordination of multiple factors including genetics, nutrition and hormones that are all working in balance. This chapter will review selected features of commonly utilized genetic techniques such as chromosomal analysis, microarray analysis, targeted gene screening and whole exome sequencing that are being used to identify genes influencing growth. As genetic technologies continue to improve and become more accessible many of these techniques will help to provide a better understanding of mechanisms underlying abnormal growth and will eventually lead to novel management approaches for abnormal growth.

Address: Division of Pediatric Endocrinology and Diabetes, Kravis Children's Hospital at Mount Sinai, One Gustave L. Levy Place, Box 1616, New York, NY 10029, USA; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1616, New York, NY 10029, USA. Electronic address: [email protected].; Division of Medical Genetics, Department of Genetics and Genomic Sciences & Department of Pediatrics, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1616, New York, NY 10029, USA.; Division of Pediatric Endocrinology and Diabetes, Kravis Children's Hospital at Mount Sinai, One Gustave L. Levy Place, Box 1616, New York, NY 10029, USA; Division of Pediatric Endocrinology and Diabetes, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1616, New York, NY 10029, USA.

DOI: 10.1016/j.ecl.2016.02.006