Double supernumerary isodicentric chromosomes derived from 15 resulting in partial hexasomy
| Autor: | Effie Pandelia, Catherine Sarri, Jolanda Gyftodimou, Hara Laskari, Michael B. Petersen, Syed K Rafi, Maria Grigoriadou, Mazin B. Qumsiyeh |
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| Rok vydání: | 2003 |
| Předmět: |
Adult
Chromosome Aberrations Gene Rearrangement Genetics Chromosomes Human Pair 15 Psychomotor retardation Marker chromosome Aneuploidy Chromosome Disorders Gene rearrangement Biology medicine.disease Hypotonia Chromosome 15 Dicentric chromosome Gene Duplication medicine Humans Female Supernumerary Angelman Syndrome medicine.symptom Prader-Willi Syndrome In Situ Hybridization Fluorescence Genetics (clinical) |
| Zdroj: | American Journal of Medical Genetics. :356-359 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.a.10050 |
| Popis: | We report two unrelated patients each with two supernumerary marker chromosomes (SMCs) derived from chromosome 15, and thus resulting in partial hexasomy. Hexasomy in the one case (family 1) was diagnosed at prenatal diagnosis and did not include the Prader-Willi/Angelman critical region (PWACR). The double SMCs were also found in the mother, the pregnancy continued to term, and an apparently phenotypically normal child was born. This represents the first report of transmission of double SMCs from mother to child. In the second case (family 2), the hexasomy did include the PWACR and was de novo in origin. This patient manifested severe psychomotor retardation, clefting of the soft palate, hypotonia, seizure-like episodes, and other phenotypic features. The aberrant phenotype is attributable to the hexasomy for the PWACR gene loci. The normal homologs of chromosome 15 proved to be biparental in origin while the two SMCs appeared maternal. |
| Databáze: | OpenAIRE |
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