Sclerocornea - A rare manifestation of full trisomy 13

Patau syndrome when caused by attachment of an extra chromosome with chromosome 13 is called as full trisomy 13. It is caused by nondisjunction of chromosomes during meiosis. The extra chromosome disrupts normal development, causing multiple and complex organ defects. Children with trisomy 13 are bo...

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Bibliographic Details
Main Authors: Snehal Ganatra, Shashikant Shetty, P Vijayalakshmi
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2021-01-01
Series:Journal of Clinical Ophthalmology and Research
Subjects:
Online Access:http://www.jcor.in/article.asp?issn=2320-3897;year=2021;volume=9;issue=2;spage=83;epage=85;aulast=Ganatra
Description
Summary:Patau syndrome when caused by attachment of an extra chromosome with chromosome 13 is called as full trisomy 13. It is caused by nondisjunction of chromosomes during meiosis. The extra chromosome disrupts normal development, causing multiple and complex organ defects. Children with trisomy 13 are born full term, but they rarely live more than a few days or weeks. Our patient was a 1-year-old female child who presented with various typical and atypical ocular and systemic findings of full trisomy 13. Her karyotyping showed the presence of an extra copy of chromosome 13. Anterior segment dysgenesis is known to occur with Patau's syndrome, but sclerocornea as a manifestation of full trisomy 13 has not been reported prior.
ISSN:2320-3897