Bilateral anterior segment dysgenesis in an infant with partial trisomy 16q and partial monosomy 3p

DİKMETAŞ Ö., Kiper P. O. S., MOCAN M. C., Utine E. G., Boduroglu K., Irkec M.

JOURNAL OF AAPOS, vol.16, no.5, pp.473-475, 2012 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 16 Issue: 5
  • Publication Date: 2012
  • Doi Number: 10.1016/j.jaapos.2012.05.008
  • Journal Name: JOURNAL OF AAPOS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.473-475
  • Hacettepe University Affiliated: Yes


Anterior segment dysgenesis comprises a spectrum of malformations arising from faulty neural crest cell migration. We report a newborn boy with partial trisomy 16q and partial monosomy 3p who presented with anterior segment dysgenesis with iris hypoplasia on the right and glaucoma on the left in association with systemic anomalies. The anterior segment dysgenesis features observed in this case have not been previously associated with partial trisomy 16q or partial monosomy 3p. Our findings support the hypothesis that an additional anterior segment dysgenesis gene may reside on chromosome 3p or 16q.