학술논문
Application of chromosomal microarray for evaluation of idiopathic short stature in Asian Indian children: A pilot study
Document Type
article
Author
Source
Indian Journal of Endocrinology and Metabolism, Vol 22, Iss 1, Pp 100-106 (2018)
Subject
Language
English
ISSN
2230-8210
Abstract
Background: Human height is a classic polygenic trait and currently available data explains only 10% of the phenotypic variation in height. Almost 60%–80% of the children coming to pediatric and endocrinology outpatient department for the evaluation of short stature are still labeled as idiopathic. Objectives: The aim of this study is to identify various chromosomal alterations causing idiopathic short stature (ISS) and short stature with dysmorphic features not pertaining to known genetic syndromes. Materials and Methods: After exclusion of all nutritional, systemic, endocrine, and syndromic causes of short stature, 19 patients with height