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

Živilė Maldžienė,Eglė Preikšaitienė,Salomėja Ignotienė,Natalija Kapitanova,Algirdas Utkus,Vaidutis Kučinskas

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

2017

Živilė Maldžienė
Eglė Preikšaitienė
Salomėja Ignotienė
Natalija Kapitanova
Algirdas Utkus
Vaidutis Kučinskas

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 cranio

Keywords:

Genetic heterogeneity
Genetics
Chromosome 4
Chromosomal inversion
Biology
PITX2
Intellectual disability
Axenfeld-Rieger syndrome
Chromosome
Chromosome Breakpoints
Mutation
Karyotype
Genetic counseling

Correction
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