A New Case of the Rare 10q22.3q23.2 Microdeletion Flanked by Low-Copy Repeats 3/4
| Autor: | Miriam Coelho Molck, Vera Lúcia Gil-da-Silva-Lopes, Fabíola Paoli Monteiro, Milena Simioni, Társis Paiva Vieira |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Genetics Recurrent respiratory tract infections Microarray analysis techniques Low copy repeats Biology medicine.disease Phenotype Molecular cytogenetics 03 medical and health sciences 030104 developmental biology Novel Insights from Clinical Practice medicine Deletion syndrome Craniofacial Genetics (clinical) Tetralogy of Fallot |
| Popis: | Deletions in the 10q22.3q23.2 region are rare and mediated by 2 low-copy repeats (LCRs 3 and 4). These deletions have already been recognized as the 10q22q23 deletion syndrome. The phenotype associated with this condition is rather uncharacteristic, and most common features are craniofacial dysmorphisms and developmental delay. We describe a boy with craniofacial dysmorphic features, developmental delay, tetralogy of Fallot, hand/foot abnormalities, and recurrent respiratory tract infections. Chromosomal microarray analysis disclosed a 7.8-Mb microdeletion at 10q22.3q23.2, flanked by LCRs 3/4, and an additional 16q12.1 microdeletion of 189 kb. This article reviews the clinical signs of reported cases with similar deletions and compares them with our patient, contributing to a better understanding of genotype-phenotype correlation. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|