Oudesluijs, G.G.

patient deletion mutation array abnormality syndrome analysis family genet 11.2 result chromosome parent trisomy trisomy 17 mosaicism sample study ultrasound right phenotype region genetic mother lcr 22-c feature mosaicism tbx 1 gene anomaly cytogenetic nding pregnancy netherland ed 1 gene skin fi broblasts examination trisomy 17 teeth missense diagnosis defect journal screening scalp hair figure tbx 1 van der hout p.arg genomic fi ndings microarray table european journal srebniak autosomal european index edar gene fi nding dna input family members hypoplastic alae nasi malformations report broblast heart history department probe fetus recessive panel input identi child counselling detection signi ficance whole-genome validation karyotyping