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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Phenotypic Findings Associated with Nested 22q11.2 ...
Phenotypic Findings Associated with Nested 22q11.2 Deletions
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Pdf Summary
The 22q11.2 Deletion Syndrome is a genetic condition caused by specific deletions in the 22q11.2 region of the chromosome. These deletions are believed to occur due to abnormal DNA exchange between repetitive regions called Low Copy Repeats (LCRs). The most common deletion includes the TBX1 gene, which is associated with congenital heart disease (CHD).<br /><br />This study focused on patients with nested 22q11.2 deletions, which include additional LCRs within the deletion region. The researchers examined the phenotypic features and inheritance patterns of these nested deletions.<br /><br />Out of the 161 patients with nested deletions, only the LCR22A-LCR22C deletions were found to be de novo (not inherited). The rest of the deletions had familial inheritance, with LCR22B-LCR22D deletions showing the highest percentage of familial cases.<br /><br />The study also found that a significant number of patients with nested deletions had additional copy number variations (CNVs), which could influence their phenotypic features. Congenital heart disease was observed in a high percentage of patients with different types of nested deletions, and other medical issues such as endocrinopathies and immunodeficiency were also common.<br /><br />The researchers did not observe psychosis in any patient with a distal nested deletion, suggesting that the presence of this symptom may be related to the standard or proximally nested 22q11.2 deletion.<br /><br />Based on their findings, the researchers suggest that clinical management and genetic counseling for patients with nested deletions should follow the guidelines established for the standard 22q11.2 deletion syndrome. They also argue that nested distal deletions should no longer be considered variants of unknown significance.<br /><br />The study highlights the importance of understanding the phenotypic features and inheritance patterns associated with nested 22q11.2 deletions, as this information can guide prognosis, recurrence risk counseling, and clinical management for affected individuals and their families.
Asset Subtitle
Presenting Author - Daniel McGinn, BS; Co-Author - Victoria Giunta, BS; Co-Author - Bekah Wang, MS; Co-Author - Lauren Lairson, BS; Co-Author - Audrey Green, BS; Co-Author - Daniela Olt, Other; Co-Author - Elaine Zackai, MD; Co-Author - Oanh Tran, BS; Co-Author - Beverly S. Emanuel, PhD; Co-Author - Terrence B. Crowley, Other; Co-Author - Donna M. McDonald-McGinn, MS;
Meta Tag
Chromosomal Abnormalities
Clinical Cytogenetics
Counseling
Delineation of Diseases
Natural History
Co-Author
Victoria Giunta, BS
Co-Author
Bekah Wang, MS
Co-Author
Lauren Lairson, BS
Co-Author
Audrey Green, BS
Co-Author
Daniela Olt, Other
Co-Author
Elaine Zackai, MD
Co-Author
Oanh Tran, BS
Co-Author
Beverly S. Emanuel, PhD
Co-Author
Terrence B. Crowley, Other
Co-Author
Donna M. McDonald-McGinn, MS
Presenting Author
Daniel McGinn, BS
Keywords
22q11.2 Deletion Syndrome
genetic condition
chromosome
Low Copy Repeats
TBX1 gene
congenital heart disease
nested 22q11.2 deletions
phenotypic features
inheritance patterns
copy number variations
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