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Issue Information
Publication year - 2020
Publication title -
congenital anomalies
Language(s) - English
Resource type - Journals
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/cga.12344
Subject(s) - craniosynostosis , uniparental disomy , sagittal plane , fibrous joint , coronal suture , snp array , craniosynostoses , snp , genetics , chromosome , biology , medicine , anatomy , karyotype , gene , single nucleotide polymorphism , genotype
Multiple craniosynostosis involving the coronal sutures (a) and the sagittal suture (b) was caused by IL11RA homozygous variant derived from the heterozygous carrier mother. (c) SNP array revealed maternal complete uniparental isodisomy of chromosome 9. Further details can be seen in the Note by Nishimura et al. in this issue.