Seeing the diagnosis on karyotype-SOX2 and eye development

Ophthalmic Genet. 2017 Dec;38(6):580-583. doi: 10.1080/13816810.2017.1290119. Epub 2017 Mar 1.

Authors

Jennifer Mulvihill¹, Ajoy Sarkar², Abhijit Dixit²

Affiliations

¹ a Queens Medical Centre, University of Nottingham Medical School , Nottingham , UK.
² b Department of Clinical Genetics , City Campus, Nottingham University Hospitals NHS Trust , Nottingham , UK.

PMID: 28635421
DOI: 10.1080/13816810.2017.1290119

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Abnormal Karyotype*
Abortion, Induced
Adult
Agenesis of Corpus Callosum / diagnostic imaging
Agenesis of Corpus Callosum / genetics
Brain / abnormalities
Chromosomes, Human, Pair 12 / genetics
Chromosomes, Human, Pair 14 / genetics
Chromosomes, Human, Pair 3 / genetics
Comparative Genomic Hybridization
Esophageal Atresia / diagnostic imaging
Esophageal Atresia / genetics*
Eye / embryology*
Female
Humans
In Situ Hybridization, Fluorescence
Infant
Karyotyping
Magnetic Resonance Imaging
Male
Microphthalmos / diagnostic imaging
Microphthalmos / genetics*
Nervous System Malformations / diagnostic imaging
Nervous System Malformations / genetics*
Prenatal Diagnosis*
SOXB1 Transcription Factors / genetics*
Sequence Deletion*
Translocation, Genetic*

Substances

SOX2 protein, human
SOXB1 Transcription Factors

Supplementary concepts

Microphthalmia, Syndromic 3