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J Pediatr Genet 2020; 09(01): 053-057
DOI: 10.1055/s-0039-1694779
DOI: 10.1055/s-0039-1694779
Case Report
Mixed Phenotype of Langer–Giedion's and Cornelia de Lange's Syndromes in an 8q23.3-q24.1 Microdeletion without TRPS1 Deletion
Further Information
Publication History
07 February 2019
09 July 2019
Publication Date:
03 September 2019 (online)
![](https://www.thieme-connect.de/media/10.1055-s-00029027/202001/lookinside/thumbnails/10-1055-s-0039-1694779_1900008-1.jpg)
Abstract
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.
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References
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