6q13q14.3 Microdeletion Syndrome with Severe Hypotonia and Facial Dysmorphism: Genotype–Phenotype Correlation-Reference-Cited by-同舟云学术

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

Published:2021-01-06 Issue: Volume: Page:
ISSN:2146-4596
Container-title:Journal of Pediatric Genetics
language:en
Short-container-title:J Pediatr Genet

Author:

Goyal Manisha¹,Faruq Mohammed²,Gupta Ashok¹,Shrivastava Divya³,Shamim Uzma²

Affiliation:

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

AbstractHypotonia 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

Publisher

Georg Thieme Verlag KG

Subject

Genetics (clinical),Pediatrics, Perinatology and Child Health

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0040-1721739.pdf

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