J Pediatr Genet 2023; 12(02): 141-143
DOI: 10.1055/s-0040-1721739
Case Report

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

Manisha Goyal
1   Centre of Rare Diseases, Department of Pediatrics, SMS Medical College, Jaipur, Rajasthan, India
,
Mohammed Faruq
2   CSIR-Institute of Genomics and Integrative Biology, New Delhi, India
,
Ashok Gupta
1   Centre of Rare Diseases, Department of Pediatrics, SMS Medical College, Jaipur, Rajasthan, India
,
Divya Shrivastava
3   School of Life Sciences, JNU, Jaipur, Rajasthan, India
,
Uzma Shamim
2   CSIR-Institute of Genomics and Integrative Biology, New Delhi, India
› Institutsangaben

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



Publikationsverlauf

Eingereicht: 07. Juli 2020

Angenommen: 08. November 2020

Artikel online veröffentlicht:
06. Januar 2021

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