Mixed Phenotype of Langer–Giedion's and Cornelia de Lange's Syndromes in an 8q23.3-q24.1 Microdeletion without TRPS1 Deletion
| Autor: | Purificación Marín-Reina, Antonio Pérez-Aytés, M. Belén Ferrer-Lorente, Francisco Martínez, Carmen Orellana, Mónica Rosello, Ana Herrero-García, Gloria Cabezuelo-Huerta |
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| Rok vydání: | 2019 |
| Předmět: |
Genetics
multiple exostoses 0303 health sciences 3-q24 Genetic heterogeneity Adrenarche 030305 genetics & heredity Gene deletion Biology Cornelia de Lange's syndrome Phenotype 8q23 03 medical and health sciences 0302 clinical medicine Langer-Giedion's syndrome Trichorhinophalangeal Syndrome Type II 1 deletion Pediatrics Perinatology and Child Health Female patient Haploinsufficiency Gene 030217 neurology & neurosurgery Genetics (clinical) premature adrenarche |
| Zdroj: | Journal of Pediatric Genetics r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe instname J Pediatr Genet |
| ISSN: | 2146-460X 2146-4596 |
| Popis: | Langer–Giedion's syndrome (LGS) or trichorhinophalangeal syndrome type II (TRPS II; MIM:150230) is a contiguous gene deletion syndrome caused by the haploinsufficiency of the TRPS1 and EXT1 genes. Cornelia de Lange's syndrome (CdLS) is a genetically heterogeneous dysmorphic syndrome where heterozygous mutations of RAD21 gene have been associated with a mild clinical presentation (CDLS type 4; MIM: 614701). We report a female patient with a 2.3-Mb interstitial deletion at 8q23.3-q24.1 encompassing EXT1 and RAD21 genes but not TRPS1. Clinical findings in this patient are correlated with a mixed phenotype of LGS and CdLS type 4. |
| Databáze: | OpenAIRE |
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