Genotypic and phenotypic variability of 22q11.2 microdeletions – an institutional experience

Gabrielle C. Manno; Gabrielle S. Segal; Alexander Yu; Fangling Xu; Joseph W. Ray; Erin Cooney; Allison D. Britt; Sunil K. Jain; Randall M. Goldblum; Sally S. Robinson; Jianli Dong; Gabrielle C. Manno; Gabrielle S. Segal; Alexander Yu; Fangling Xu; Joseph W. Ray; Erin Cooney; Allison D. Britt; Sunil K. Jain; Randall M. Goldblum; Sally S. Robinson; Jianli Dong

doi:10.3934/molsci.2021020

AIMS Molecular Science

2021, Volume 8, Issue 4: 257-274. doi: 10.3934/molsci.2021020

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Case report

Genotypic and phenotypic variability of 22q11.2 microdeletions – an institutional experience

1.
School of Medicine, University of Texas Medical Branch, Galveston, Texas, USA
2.
Department of Pathology, University of Texas Medical Branch, Galveston, Texas, USA
3.
Department of Pediatrics, University of Texas Medical Branch, Galveston, Texas, USA
^# Co-first authors

Received: 13 September 2021 Accepted: 18 November 2021 Published: 09 December 2021

Patients with chromosome 22q11.2 deletion syndromes classically present with variable cardiac defects, parathyroid and thyroid gland hypoplasia, immunodeficiency and velopharyngeal insufficiency, developmental delay, intellectual disability, cognitive impairment, and psychiatric disorders. New technologies including chromosome microarray have identified smaller deletions in the 22q11.2 region. An increasing number of studies have reported patients presenting with various features harboring smaller 22q11.2 deletions, suggesting a need to better elucidate 22q11.2 deletions and their phenotypic contributions so that clinicians may better guide prognosis for families. We identified 16 pediatric patients at our institution harboring various 22q11.2 deletions detected by chromosomal microarray and report their clinical presentations. Findings include various neurodevelopmental delays with the most common one being attention deficit hyperactivity disorder (ADHD), one reported case of infant lethality, four cases of preterm birth, one case with dual diagnoses of 22q11.2 microdeletion and Down syndrome. We examined potential genotypic contributions of the deleted regions.
- genotype-phenotype correlation,
- chromosome 22q11.2,
- microdeletions,
- 22q11.2 deletion syndromes,
- chromosome microarray
Citation: Gabrielle C. Manno, Gabrielle S. Segal, Alexander Yu, Fangling Xu, Joseph W. Ray, Erin Cooney, Allison D. Britt, Sunil K. Jain, Randall M. Goldblum, Sally S. Robinson, Jianli Dong. Genotypic and phenotypic variability of 22q11.2 microdeletions – an institutional experience[J]. AIMS Molecular Science, 2021, 8(4): 257-274. doi: 10.3934/molsci.2021020

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Abstract

Patients with chromosome 22q11.2 deletion syndromes classically present with variable cardiac defects, parathyroid and thyroid gland hypoplasia, immunodeficiency and velopharyngeal insufficiency, developmental delay, intellectual disability, cognitive impairment, and psychiatric disorders. New technologies including chromosome microarray have identified smaller deletions in the 22q11.2 region. An increasing number of studies have reported patients presenting with various features harboring smaller 22q11.2 deletions, suggesting a need to better elucidate 22q11.2 deletions and their phenotypic contributions so that clinicians may better guide prognosis for families. We identified 16 pediatric patients at our institution harboring various 22q11.2 deletions detected by chromosomal microarray and report their clinical presentations. Findings include various neurodevelopmental delays with the most common one being attention deficit hyperactivity disorder (ADHD), one reported case of infant lethality, four cases of preterm birth, one case with dual diagnoses of 22q11.2 microdeletion and Down syndrome. We examined potential genotypic contributions of the deleted regions.

Acknowledgments

This work was supported partially by the National Institutes of Health (NIH) fund (5TL1TR001440-02), for which AY is a predoctoral trainee.

Conflict of interest

All authors declare no conflict of interest in this paper.

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