1.6Mb deletion in chromosome band 3q29 associated with eye abnormalities
| Autor: | Eva-Maria Gerlach, Teresa Neuhann, Sigrid Tinschert, Nataliya Tyshchenko, Karl Hackmann, Evelin Schröck |
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| Rok vydání: | 2009 |
| Předmět: |
Pathology
medicine.medical_specialty 3q29 microdeletion syndrome Developmental Disabilities Eye disease Chromosome Disorders Biology Microphthalmia Cataract Pyloric stenosis Genetics medicine Humans Microphthalmos Eye Abnormalities Genetics (clinical) Comparative Genomic Hybridization Infant Karyotype Genomics General Medicine medicine.disease eye diseases Chromosome Band Karyotyping Female Chromosomes Human Pair 3 sense organs Chromosome Deletion Comparative genomic hybridization |
| Zdroj: | European Journal of Medical Genetics. 52:128-130 |
| ISSN: | 1769-7212 |
| Popis: | We report on a patient with a de novo microdeletion 3q29 detected by molecular karyotyping using array CGH analysis. The girl displayed microphthalmia and cataract, hyperplastic pyloric stenosis, mild dysmorphic facial features, and developmental delay. Array CGH analysis uncovered a 1.6Mb deletion within chromosome band 3q29, which overlaps with the commonly deleted region in 3q29 microdeletion syndrome. According to published data, none of the patients with deletion 3q29 showed either congenital cataract and microphthalmia, or other ocular features. Our report expands the phenotypic spectrum of the 3q29 microdeletion syndrome by adding structural eye malformations. |
| Databáze: | OpenAIRE |
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