J Pediatr Genet 2020; 09(01): 053-057
DOI: 10.1055/s-0039-1694779
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Mixed Phenotype of Langer–Giedion's and Cornelia de Lange's Syndromes in an 8q23.3-q24.1 Microdeletion without TRPS1 Deletion

Ana Herrero-García
1  Department of Pediatrics, University and Polytechnic Hospital La Fe, Valencia, Spain
,
Purificación Marín-Reina
2  Dysmorphology and Reproductive Genetics Unit, Neonatal Research Group, Health Research Institute Hospital La Fe, University and Polytechnic Hospital La Fe, Valencia, Spain
,
Gloria Cabezuelo-Huerta
1  Department of Pediatrics, University and Polytechnic Hospital La Fe, Valencia, Spain
,
M. Belén Ferrer-Lorente
1  Department of Pediatrics, University and Polytechnic Hospital La Fe, Valencia, Spain
,
Mónica Rosello
3  Department of Genetics, Translational Genetics Research Group, Health Research Institute Hospital La Fe, University and Polytechnic Hospital La Fe, Valencia, Spain
,
Carmen Orellana
3  Department of Genetics, Translational Genetics Research Group, Health Research Institute Hospital La Fe, University and Polytechnic Hospital La Fe, Valencia, Spain
,
Francisco Martínez
3  Department of Genetics, Translational Genetics Research Group, Health Research Institute Hospital La Fe, University and Polytechnic Hospital La Fe, Valencia, Spain
,
Antonio Pérez-Aytés
2  Dysmorphology and Reproductive Genetics Unit, Neonatal Research Group, Health Research Institute Hospital La Fe, University and Polytechnic Hospital La Fe, Valencia, Spain
› Author Affiliations
Further Information

Publication History

07 February 2019

09 July 2019

Publication Date:
03 September 2019 (online)

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.