Open AccessDuplication of 19q (13.2-13.31) associated with comitant esotropia: A case report
Author(s) -
Yue-Lan Feng,
Ningdong Li
Publication year - 2021
Publication title -
world journal of clinical cases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v9.i20.5526
Subject(s) - medicine , esotropia , gene duplication , ophthalmology , surgery , strabismus , genetics , biology , gene
Comitant esotropia is the most common form of strabismus. It is caused by heterogeneous environmental and genetic risk factors. The pure duplication of the long arm of chromosome 19 is a rare abnormality. Only 8 patients with partial trisomy of the long arm of chromosome 19q have been reported to date. Here, we describe a girl with pure duplication of 19q, who was diagnosed with congenital esotropia, microcephaly, and gallbladder agenesis.