Phenotype of COL3A1/COL5A2 deletion patients.

Introduction: The diagnosis of Ehlers-Danlos syndrome is usually based on well-defined diagnostic criteria and the result of DNA investigation. Classical (cEDS) and vascular type (vEDS) are the most prevalent subtypes and are caused by heterozygous pathogenic variants in COL5A1, COL5A2, COL1A1 or, respectively, in COL3A1. We describe 3 cases with contiguous deletions resulting in haploinsufficiency of both genes with relative mild features of connective tissue disease.

Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities.

Background: We have investigated whether replacing conventional karyotyping by SNP array analysis in cases of foetal ultrasound abnormalities would increase the diagnostic yield and speed of prenatal diagnosis in clinical practice.

Findings/results: From May 2009 till June 2011 we performed HumanCytoSNP-12 array (HCS) (http://www.Illumina.