| Autor: |
Surasak Puvabanditsin, Vidya Puthenpura, Seyni Gueye-Ndiaye, Michele Takyi, Adaora Madubuko, Lauren Walzer, Rajeev Mehta |
| Jazyk: |
angličtina |
| Rok vydání: |
2018 |
| Předmět: |
|
| Zdroj: |
Annals of Pediatric Cardiology, Vol 11, Iss 2, Pp 194-196 (2018) |
| Druh dokumentu: |
article |
| ISSN: |
0974-2069 |
| DOI: |
10.4103/apc.APC_21_17 |
| Popis: |
We report a term female infant with congenital heart block and total anomalous of pulmonary venous return. The results of single nucleotide polymorphism oligonucleotide microarray analysis showed an interstitial duplication of approximately 818 Kb, which involved 11 genes, including the entire LAMB3 gene which is known to associate with cardiac conduction defect. Our report adds to the collective knowledge that the cardiac conduction defect is a clinical feature of chromosome 1q32.2 duplication. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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