Anophthalmia in a retarded girl with partial trisomy 4p and 22 following a maternal translocation, rcp(4;22)(pl5.2;qll.2)
| Autor: | V. D'apuzzo, A. Schinzel |
|---|---|
| Rok vydání: | 1990 |
| Předmět: |
Genetics
Anophthalmia business.industry media_common.quotation_subject Chromosome Chromosomal translocation macromolecular substances Anatomy medicine.disease eye diseases Ophthalmology Chromosome 4 Pediatrics Perinatology and Child Health medicine Preauricular pit Girl business Trisomy Chromosome 22 Genetics (clinical) media_common |
| Zdroj: | Ophthalmic Paediatrics and Genetics. 11:139-142 |
| ISSN: | 0167-6784 |
| DOI: | 10.3109/13816819009012960 |
| Popis: | An 18-year-old girl displayed left anophthalmia and right severe microphthalmia, mild dysmorphic features of facies and distal limbs, a right preauricular pit, and moderate mental retardation. She was trisomic for the distal part of the short arm of chromosome 4 and the proximal segment of chromosome 22, due to unbalanced 3:1 segregation of a maternal 4;22-translocation. Anophthalmia is a rare finding in chromosome aberrations in general, and particularly in patients not featuring other severe malformations and severe to profound mental retardation. |
| Databáze: | OpenAIRE |
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