Preferential maternal derivation in inv dup(15)
| Autor: | Loretta Ghersini, Renata Lorini, Lisa Poloni, Giorgio Gimelli, Daniela Tonetti, Diletta Peretti, Paola Maraschio, Christa Fonatsch, Orsetta Zuffardi, G. Zamboni, Sibylle D. Flatz, Franca Bernardi, Mario Loi, C. De Paoli, Mauro Bozzola, Roberta Vanni |
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| Rok vydání: | 1981 |
| Předmět: |
Male
Adolescent Trisomy Biology Chromosome 15 Developmental retardation Seizures Intellectual Disability Genetics Homologous chromosome Humans Abnormalities Multiple Derivation Child Growth Disorders Genetics (clinical) Infant Chromosome Human genetics Phenotype Chromosome Inversion dup Female Chromatid Chromosomes Human 13-15 |
| Zdroj: | Human Genetics. 57:345-350 |
| ISSN: | 1432-1203 0340-6717 |
| DOI: | 10.1007/bf00281681 |
| Popis: | Eight patients are reported with a de novo extra inverted duplicated chromosome 15. The abnormal chromosome was considered to be the same in all cases, but its precise delineation remained uncertain and was defined as either 15pter leads to 15q12::15q12 leads to 15pter or 15pter leads to 15q11::15q13 leads to 15pter. Analysis with various techniques of the satellite regions of the bisatellited chromosomes demonstrated maternal derivation in six and paternal derivation in one of the seven families. A non-sister chromatid exchange between the two homologous chromosomes 15 is considered a likely origin of the inv dup(15) in the cases with maternal derivation; in the only case of paternal derivation, however, the abnormal chromosome originated from one single chromosome 15. The clinical findings confirm that patients with inv dup(15) have mental and developmental retardation and are frequently affected by seizures, while severe physical malformations are absent. |
| Databáze: | OpenAIRE |
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