2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Williams syndrome: An infant with an unusually large deletion at 7q11.23 and unique clinical presentation

Pdf Summary

This document discusses a case of a 22-month-old female patient with Williams syndrome (WS) who has a significantly large deletion at 7q11.23, as well as a duplication at 2q33.3. WS is typically caused by a deletion at 7q11.23 and is characterized by various clinical features, including cardiovascular disease, distinct facial features, endocrine abnormalities, developmental delays, connective tissue abnormalities, and unique personality characteristics. The usual deletion spans about 26 to 28 genes, but this patient's deletion is larger, involving 42 genes. Other cases of large deletions did not present with the same renal abnormalities as this patient.<br /><br />The patient's medical history includes supravalvular aortic and pulmonary stenosis, hypercalcemia, milestone delays, dysmorphic facies, and growth abnormalities, which are consistent with the typical characteristics of WS. However, this patient also has unique nephrologic abnormalities, including non-functioning left multicystic dysplastic kidney, chronic kidney disease, and ureteropelvic junction stenosis with severe hydronephrosis and renal dysplasia. These renal abnormalities are not typical of WS presentations.<br /><br />The document emphasizes the need for consistent follow-up to ensure optimal health for this patient with WS and the unique multisystemic disorder she has due to her large deletion and duplication. The 707 kbp duplication at 2q33.3 is of uncertain clinical significance and may influence her phenotype in unknown ways.<br /><br />In conclusion, this case highlights the unique clinical presentation of a patient with WS who has a significantly large deletion and a duplication. While the patient exhibits typical characteristics of WS, such as cardiovascular, endocrine, developmental, and facial abnormalities, her renal abnormalities are distinct and differ from typical WS presentations. Further research and consistent follow-up are needed to understand the impact of these genetic variations on her health and development.

Asset Subtitle

Presenting Author - Katie Farkouh, BA; Co-Author - Jennifer Black, MS, CGC; Co-Author - Robert Roger Lebel, MD, FACMG; Co-Author - Scott C. Smith, PhD, FACMG;

Meta Tag

Cardiac/circulatory disorders

Chromosomal Abnormalities

Clinical Applications of Molecular Cytogenetics

Clinical Cytogenetics

Clinical History

Cognitive Disorders

Cytogenetics

Eye disorders

FISH

Gene Localization

Genetic Diversity

Genome sequencing

Identification of Disease Genes

Intellectual disability

Molecular Cytogenetics

Phenotype

Sequencing

Co-Author Jennifer Black, MS, CGC

Co-Author Robert Roger Lebel, MD, FACMG

Co-Author Scott C. Smith, PhD, FACMG

Presenting Author Katie Farkouh, BA

Keywords

Williams syndrome

22-month-old female patient

7q11.23 deletion

2q33.3 duplication

cardiovascular disease

distinct facial features

endocrine abnormalities

developmental delays

connective tissue abnormalities

unique personality characteristics