14q22.3 Microdeletion encompassing OTX2 in a five-generation family with microphthalmia, pituitary abnormalities, and intellectual disability

Ophthalmic Genet. 2016 Sep;37(3):352-3. doi: 10.3109/13816810.2015.1059463. Epub 2016 Feb 9.

Authors

Gabriela E Jones¹, Lisa Robertson², Paul Warman³, Emily V Craft¹, Lara Cresswell³, Pradeep C Vasudevan¹

Affiliations

¹ a Clinical Genetics Department , University Hospitals Leicester NHS Trust , Leicester , UK.
² b Clinical Genetics Department , North of Scotland Regional Genetics Service , Aberdeen , UK.
³ c Cytogenetics Laboratory , University Hospitals Leicester NHS Trust , Leicester , UK.

PMID: 26860946
DOI: 10.3109/13816810.2015.1059463

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Child, Preschool
Chromosome Aberrations*
Chromosomes, Human, Pair 14 / genetics*
Female
Humans
Intellectual Disability / genetics*
Limb Deformities, Congenital / genetics*
Microphthalmos / genetics*
Nervous System Malformations / genetics*
Oligonucleotide Array Sequence Analysis
Otx Transcription Factors / genetics*
Pedigree
Sequence Deletion*
Urogenital Abnormalities / genetics*

Substances

OTX2 protein, human
Otx Transcription Factors

Supplementary concepts

Microphthalmia, Syndromic 6