6q13q14.3 Microdeletion Syndrome with Severe Hypotonia and Facial Dysmorphism: Genotype-Phenotype Correlation

Manisha Goyal; Mohammed Faruq; Ashok Gupta; Divya Shrivastava; Uzma Shamim

doi:10.1055/s-0040-1721739

6q13q14.3 Microdeletion Syndrome with Severe Hypotonia and Facial Dysmorphism: Genotype-Phenotype Correlation

J Pediatr Genet. 2021 Jan 6;12(2):141-143. doi: 10.1055/s-0040-1721739. eCollection 2023 Jun.

Authors

Manisha Goyal¹, Mohammed Faruq², Ashok Gupta¹, Divya Shrivastava³, Uzma Shamim²

Affiliations

¹ Centre of Rare Diseases, Department of Pediatrics, SMS Medical College, Jaipur, Rajasthan, India.
² CSIR-Institute of Genomics and Integrative Biology, New Delhi, India.
³ School of Life Sciences, JNU, Jaipur, Rajasthan, India.

Abstract

Hypotonia is a symptom of diminished tone of skeletal muscle and can be nongenetic or a part of genetic syndrome. Hypotonia, developmental delay, and facial dysmorphism are nonspecific findings observed in many genetic syndromes mostly in chromosomal microdeletion and duplication. Here we report a case with severe hypotonia and facial dysmorphism, diagnosed with deletion at 6q13q14.3 by array comparative genomic hybridization (CGH) at very early age. Recent genetic diagnostic technologies such as array CGH may enable clinicians to diagnose chromosomal abnormalities earlier and provide appropriate medical management.

Keywords: 6q deletion; array CGH; hypotonia.

Publication types

Case Reports