Bilateral severe microphthalmia in a neonate with trisomy 8 mosaicism: A new finding.

Bevan SandersonCourtney LeachMike ZeinOmar IslamGillian MacLeanYi Ning J StrubeAndrea Guerin

Published in: American journal of medical genetics. Part A (2020)

Mosaic Trisomy 8 is a rare chromosomal abnormality estimated to occur one in 30,000 newborns. The phenotype is highly variable and the severity does not appear to be correlated with the proportion of cells that contain the additional chromosome. Ocular involvement in Trisomy 8 mosaicism has previously been described to include corneal opacities, retinal dystrophy, coloboma, and unilateral microphthalmia. We report a case of severe bilateral microphthalmia in a neonate with Trisomy 8 mosaicism, a previously unrecognized ophthalmic manifestation.

Keyphrases

early onset
optical coherence tomography
induced apoptosis
copy number
pregnant women
case report
diabetic retinopathy
cell cycle arrest
optic nerve
gene expression
preterm infants
oxidative stress
low birth weight
drug induced
signaling pathway
cell death
cataract surgery