The First De Novo Non-Mosaic 14q11.2q13.1 Tetrasomy of Paternal Origin
| Autor: | Robert-Jan H. Galjaard, Jakub Behrendt, Malgorzata I. Srebniak, Urszula Godula-Stuglik, Marjan Boter, Agnieszka Tomaszewska, Angelika Wawrzkiewicz-Witkowska, Agnieszka Podbiol-Palenta, Marnix J. Bos |
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| Přispěvatelé: | Clinical Genetics |
| Rok vydání: | 2016 |
| Předmět: |
Male
0301 basic medicine Marker chromosome 030105 genetics & heredity Biology Chromosome aberration Genomic Imprinting 03 medical and health sciences Genetics medicine Humans Paternal Inheritance Genetics (clinical) Chromosome Aberrations Chromosomes Human Pair 14 Infant Newborn Infant Chromosome medicine.disease Blepharophimosis Tetrasomy Genomic imprinting SNP array |
| Zdroj: | American Journal of Medical Genetics Part A, 170(5), 1283-1287. Wiley-Liss Inc. |
| ISSN: | 1552-4833 1552-4825 |
| Popis: | Tetrasomy 14q11q13 is a very rare chromosome aberration. So far, only five patients with such an imbalance were described. All these patients had a de novo marker chromosome idic(14)(q13) leading to a partial tetrasomy of chromosome 14. We report on the first case of a de novo non-mosaic partial tetrasomy 14q resulted not from a marker chromosome, but from an inverted triplication on paternal chromosome 14, characterized by using FISH and SNP array. Our patient showed some anomalies described in tetrasomy 14q11q13 with striking presence of paternal UPD(14) features (blepharophimosis, small thorax, and joint contractures, developmental delay). This unique patient supports the hypothesis that 14q11q13 may contain imprinted gene(s) that contribute to the paternal UPD(14) features of joint contractures and/or blepharophimosis. This patient demonstrates the utility of parent of origin testing in patients with de novo chromosome 14 aberrations. Overdosage of 14q11.1q13.1 may cause some features related to UPD(14) phenotype. |
| Databáze: | OpenAIRE |
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