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Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome
- Source :
- American Journal of Medical Genetics Part A. :381-385
- Publication Year :
- 2005
- Publisher :
- Wiley, 2005.
-
Abstract
- Deletion of distal 6p is associated with a distinctive clinical phenotype including Axenfeld-Rieger malformation, hearing loss, congenital heart disease, dental anomalies, developmental delay, and a characteristic facial appearance. We report the case of a child where recognition of the specific ocular and facial phenotype, led to identification of a 6p microdeletion arising from a de novo 6:18 translocation. Detailed analysis confirmed deletion of the FOXC1 forkhead gene cluster at 6p25. CNS anomalies included hydrocephalus and hypoplasia of the cerebellum, brainstem, and corpus callosum with mild to moderate developmental delay. Unlike previous reports, hearing was normal.
- Subjects :
- Male
congenital, hereditary, and neonatal diseases and abnormalities
Pathology
medicine.medical_specialty
Hearing loss
Biology
Corpus callosum
Genetics
medicine
Humans
Abnormalities, Multiple
Eye Abnormalities
Cerebellar hypoplasia
Genetics (clinical)
Tooth Abnormalities
Infant
Syndrome
Microdeletion syndrome
medicine.disease
Phenotype
eye diseases
Hypoplasia
Chromosome Banding
Hydrocephalus
Face
Karyotyping
Chromosomes, Human, Pair 6
sense organs
Brainstem
Chromosome Deletion
medicine.symptom
Subjects
Details
- ISSN :
- 15524833 and 15524825
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics Part A
- Accession number :
- edsair.doi.dedup.....03743039cae58931628e7b5d1ee18f0c