Insights into 6q21-q22: Refinement of the critical region for acro-cardio-facial syndrome
| Autor: | Donatella Milani, Marco Baccarin, Enrico Alfei, Susanna Esposito, Silvana Guerneri, Giulia Anna Cagnoli |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Genetics Embryology Heart disease business.industry Foot malformation Chromosome General Medicine 030105 genetics & heredity medicine.disease 03 medical and health sciences Epilepsy Pediatrics Perinatology and Child Health Chromosomal region medicine business Developmental Biology |
| Zdroj: | Congenital Anomalies. 56:187-189 |
| ISSN: | 0914-3505 |
| DOI: | 10.1111/cga.12164 |
| Popis: | Deletions on chromosome 6q are rarely reported in the literature, and genotype-phenotype correlations are poorly understood. We report a child with a deletion of the 6q21-q22 chromosomal region, providing some intriguing results about the correlation between this region and acro-cardio-facial syndrome, congenital heart disease, split hand and foot malformation, and epilepsy. |
| Databáze: | OpenAIRE |
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