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Bilateral severe microphthalmia in a neonate with trisomy 8 mosaicism: A new finding.
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Feb; Vol. 185 (2), pp. 534-538. Date of Electronic Publication: 2020 Nov 11. - Publication Year :
- 2021
-
Abstract
- 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.<br /> (© 2020 Wiley Periodicals LLC.)
- Subjects :
- Abnormalities, Multiple pathology
Chromosomes, Human, Pair 8 genetics
Coloboma genetics
Coloboma pathology
Corneal Opacity complications
Corneal Opacity pathology
Female
Humans
Infant
Infant, Newborn
Male
Microphthalmos complications
Microphthalmos pathology
Mosaicism
Phenotype
Retinal Dystrophies genetics
Retinal Dystrophies pathology
Abnormalities, Multiple genetics
Corneal Opacity genetics
Microphthalmos genetics
Trisomy genetics
Uniparental Disomy genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4833
- Volume :
- 185
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Report
- Accession number :
- 33179440
- Full Text :
- https://doi.org/10.1002/ajmg.a.61955