biostudies-literatureHapp HNational Institutes of Health awardsNEI NIH HHSNCRR NIH HHSClinical and Translational Science Award (CTSA) programNational Institutes of HealthChildren's Hospital of Wisconsin2471-5https://www.ebi.ac.uk/biostudies/studies/S-EPMC5119633biostudies-literatureUnknown170(9)Peters anomaly is a form of anterior segment dysgenesis characterized by central ocular opacity and corneo-lenticular adhesions. Isolated and syndromic Peters anomaly can be observed and demonstrate significant genetic heterogeneity. We report the identification of overlapping 8q21.11 deletions in two patients with syndromic Peters anomaly via whole exome sequencing and chromosomal microarray analyses. Microdeletions of 8q21.11 were recently reported in 10 patients with highly variable phenotypes involving craniofacial features, ptosis, intellectual disability, abnormalities of the hands/feet and other defects; sclerocornea and/or microphthalmia were reported in three cases. The two additional cases presented in this report expand the phenotypic spectrum of 8q21.11 microdeletions to includAmerican journal of medical genetics. Part A8q21.11 microdeletion in two patients with syndromic peters anomaly.PMC5119633R01EY0155181UL1RR031973UL1 RR031973P30EY001931P30 EY001931R01 EY015518Reis LMSemina EVWeh EHapp HSchilter KFfalse8q21.11 microdeletion in two patients with syndromic peters anomaly.Peters anomaly is a form of anterior segment dysgenesis characterized by central ocular opacity and corneo-lenticular adhesions. Isolated and syndromic Peters anomaly can be observed and demonstrate significant genetic heterogeneity. We report the identification of overlapping 8q21.11 deletions in two patients with syndromic Peters anomaly via whole exome sequencing and chromosomal microarray analyses. Microdeletions of 8q21.11 were recently reported in 10 patients with highly variable phenotypes involving craniofacial features, ptosis, intellectual disability, abnormalities of the hands/feet and other defects; sclerocornea and/or microphthalmia were reported in three cases. The two additional cases presented in this report expand the phenotypic spectrum of 8q21.11 microdeletions to includ2016-01-01T00:00:00Z2016 Sep2025-04-27T01:21:10.394Z2019-03-27T02:29:35ZS-EPMC51196332737816810.1002/ajmg.a.37840