A de novo Pericentric Inversion in Chromosome 4 Associated with Disruption of<b><i> PITX2</i></b> and a Microdeletion in 4p15.2 in a Patient with Axenfeld-Rieger Syndrome and Developmental Delay

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.

Genomo persitvarkymai, esant įgimtiems centrinės nervų sistemos raidos sutrikimams: kilmė, genominiai mechanizmai, funkcinės ir klinikinės pasekmės. Darbų apžvalga

“…4p15.2 mik ro de le ci ja anks èiau li te ra tû ro je ne bu vo ap ra ðy ta. Mik ro de le ci jos sri ty je esan èiø PPARGC1A ir DHX15 ge nø hap lo ne pakan ka mu mas ga li lem ti psi cho mo to ri nës rai dos su trik dymà [17].…”

Practical guide to genetic screening for inherited eye diseases

“…Karyotyping is one of the most conventional ways of testing for chromosomal abnormalities. 122,123 It can only detect large anomalies (minimum size: 5-10 Mb) like deletions, inversions or duplications. 124,125 It is commonly used in prenatal testing for the detection of Down's syndrome which is related to many ocular conditions including strabismus, refractive error, nystagmus, eyelid malposition, corneal ectasias, iris nodules (Brushfield spots), presenile cataracts, glaucoma and retinovascular anomalies.…”