16q22.1 microdeletion and anticipatory guidance
| Autor: | Lina Ramos, D James Stavropoulos, Lucie Dupuis, Pedro Louro, Sarah Abdullah, Roberto Mendoza-Londono, Mayada Helal |
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| Rok vydání: | 2019 |
| Předmět: |
Male
0301 basic medicine Genetics Comparative Genomic Hybridization Infant Syndrome 030105 genetics & heredity Biology Microdeletion syndrome Phenotype 03 medical and health sciences 030104 developmental biology Child Preschool Failure to thrive medicine Humans Female Chromosome Deletion medicine.symptom Chromosomes Human Pair 16 Genetics (clinical) Comparative genomic hybridization |
| Zdroj: | American Journal of Medical Genetics Part A. |
| ISSN: | 1552-4833 1552-4825 |
| Popis: | The widespread availability of comparative genomic hybridization (CGH) array analysis has led to the discovery of several genomic microdeletion-associated syndromes and has identified possible genetic causes for patients with previously unexplained clinical features. We report the case of four unrelated patients who share common clinical characteristics, namely failure to thrive, developmental delay, dysmorphic features, and congenital anomalies. CGH array analysis revealed that all four patients had a de novo microdeletion at 16q22.1. In this case report, we describe the clinical features of these patients and offer possible explanations for how their 16q22.1 microdeletion may account for their symptoms. We also suggest guidelines for the management of 16q22.1 microdeletion based on the phenotypes seen in our patients and the function of the genes affected by this microdeletion. |
| Databáze: | OpenAIRE |
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