title: Genetic Techniques in the Evaluation of Short Stature.
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.
authors.affiliation: 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: christopher.romero@mountsinai.edu.
authors.forename: Christopher J
authors.initials: CJ
authors.lastname: Romero
authors.affiliation: 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.
authors.forename: Lakshmi
authors.initials: L
authors.lastname: Mehta
authors.affiliation: 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.
authors.forename: Robert
authors.initials: R
authors.lastname: Rapaport
mesh_terms: D001827:Body Height / Q000235:genetics*; D059472:Exome; D005821:Genetic Techniques; D006130:Growth Disorders / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis; D017422:Sequence Analysis, DNA
keywords: Genome-wide analysis; Height; Microarray analysis; Short stature; Whole-exome sequencing