We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
A de novo Pericentric Inversion in Chromosome 4 Associated with Disruption of PITX2 and a Microdeletion in 4p15.2 in a Patient with Axenfeld-Rieger Syndrome and Developmental Delay.
- Authors
Maldžienė, Živilė; Preikšaitienė, Eglė; Ignotienė, Salomėja; Kapitanova, Natalija; Utkus, algirdas; Kučinskas, Vaidutis
- Abstract
Axenfeld-Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of autosomal dominantly inherited malformations that predominantly affect the eye but are also associated with craniofacial dysmorphism and dental abnormalities. A broad spectrum of genetic alterations involving PITX2 and FOXC1 lead to ARS. We report on a 4-year-old girl with clinical features of ARS and developmental delay due to a de novo apparently balanced pericentric inversion in chromosome 4. This report emphasizes that complementary investigations are necessary to precisely characterize chromosomal rearrangements. Elucidation of the exact genetic cause of ARS is important for comprehensive genetic counseling of the family members and for better patient management.
- Subjects
AXENFELD-Rieger syndrome; MUSCLE dysmorphia; CRANIOFACIAL abnormalities; CHROMOSOMES; EYE abnormalities
- Publication
Cytogenetic & Genome Research, 2017, Vol 151, Issue 1, p5
- ISSN
1424-8581
- Publication type
Article
- DOI
10.1159/000456695