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Complex phenotype associated with 17q21.31 microdeletion.

H Dornelles-Wawruk¹, A Pic-Taylor, C Rosenberg

¹Departamento de Genética e Morfologia, Instituto de Ciências Biológicas, Brazil.

Molecular Syndromology

|October 30, 2013

Summary

This summary is machine-generated.

This case study details a patient with a large 17q21.31 microdeletion, presenting common and rare symptoms. The findings expand understanding of this genetic disorder.

Keywords:

17q21.31 microdeletion syndrome Array-CGH Cervical arthrosis Chronic anemia Intellectual disability Vertebrae fusion

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Area of Science:

Genetics
Clinical Medicine
Human Physiology

Background:

17q21.31 microdeletion syndrome is a rare genetic disorder.
Characterized by a range of developmental and physical abnormalities.
Previous cases have described various clinical manifestations.

Purpose of the Study:

To report a unique case of 17q21.31 microdeletion syndrome.
To describe novel clinical features associated with the deletion.
To contribute to the understanding of genotype-phenotype correlations.

Main Methods:

Clinical case presentation.
Genetic analysis to identify the microdeletion.
Review of existing literature on 17q21.31 microdeletion syndrome.

Main Results:

A patient with a 695-kb 17q21.31 microdeletion was identified.
The patient exhibited common syndrome features and three previously unreported symptoms: chronic anemia, cervical vertebrae arthrosis, and vertebrae fusion.
The deletion size was larger than typically reported, likely due to recombination between low-copy repeats.

Conclusions:

This case highlights the phenotypic variability of 17q21.31 microdeletion syndrome.
The newly described symptoms expand the known clinical spectrum of the disorder.
Further research is needed to fully elucidate the impact of 17q21.31 microdeletions.