Genetics Corner: Coloboma and Microphthalmia in a Newborn with a 16p13.11 Microduplication.

Autor: Fowler, Alexandra, Shin, Jennifer, Clark, Robin D.
Předmět:
Zdroj: Neonatology Today; Oct2024, Vol. 19 Issue 10, p197-200, 4p
Abstrakt: The article describes the case of a 19-month-old male with bilateral microphthalmia and left coloboma of the iris evaluated in the outpatient Genetics Clinic. Topics discussed include a strong family history of psychiatric and neurodevelopmental disorders in the maternal lineage, genetic causes of colobomas and microphthalmias, and a published report of a patient with a 16p13.11 duplication and coloboma.
Databáze: Complementary Index