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Mosaic Williams syndrome: A case report.

Silvia Kalantari¹, Marta Di Biagio^2,3, Enza Maria Valente^2,3

¹Department of Medical Sciences, University of Turin, Turin, Italy.

American Journal of Medical Genetics. Part A

|October 20, 2022

Summary

Williams syndrome (WS), a genetic disorder from 7q11.23 deletion, was identified in a patient with germline mosaicism. This rare finding expands understanding of WS genetic variations.

Keywords:

7q11.23 microdeletion Williams syndrome mosaic microdeletion syndrome mosaicism

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Area of Science:

Genetics
Human Diseases
Molecular Biology

Background:

Williams syndrome (WS) is a genetic disorder caused by heterozygous deletions in the 7q11.23 chromosomal region.
Key features include distinct facial features, cardiovascular issues, developmental delays, and specific cognitive-behavioral patterns.

Observation:

Mosaicism, the presence of cell populations with different genetic makeup, is uncommon in microdeletion syndromes.
This report details a 51-year-old female exhibiting typical WS clinical manifestations.

Findings:

Chromosomal microarray analysis and fluorescence in situ hybridization revealed 54%-68% germline mosaicism for the 7q11.23 deletion in the patient.
This is the first reported case of WS phenotype associated with germline mosaicism for this deletion.

Implications:

The discovery of germline mosaicism in WS broadens the spectrum of genetic mechanisms underlying the syndrome.
This finding may necessitate re-evaluation of diagnostic approaches and genetic counseling for families with WS.
Further research into mosaicism in microdeletion syndromes is warranted to understand its prevalence and clinical impact.