Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome
| Autor: | V Soubjaki, Gillian Turner, M W Partington, K Fagan |
|---|---|
| Rok vydání: | 1997 |
| Předmět: |
Adult
Genetic Markers Male Microcephaly Adolescent Translocation Breakpoint Chromosomal translocation Locus (genetics) Biology Translocation Genetic Gene mapping Pregnancy Intellectual Disability Gene duplication Diseases in Twins Genetics medicine Humans Receptor Fibroblast Growth Factor Type 3 Abnormalities Multiple Child Growth Disorders In Situ Hybridization Fluorescence Genetics (clinical) Infant Newborn Middle Aged Protein-Tyrosine Kinases medicine.disease Receptors Fibroblast Growth Factor Pedigree Gigantism Child Preschool Overgrowth syndrome Female Chromosomes Human Pair 4 Gene Deletion Research Article |
| Zdroj: | Journal of Medical Genetics. 34:719-728 |
| ISSN: | 1468-6244 |
| DOI: | 10.1136/jmg.34.9.719 |
| Popis: | Three families are reported who have a translocation involving 4p16.3. Nine subjects are described with the clinical features of the Pitt-Rogers-Danks (PRD) syndrome confirming pre- and postnatal growth failure, microcephaly, severe mental retardation, seizures, and a distinctive facial appearance; a deletion of 4p16.3 was seen in all eight patients studied with fluorescence in situ hybridisation (FISH). Eleven subjects had a new syndrome with physical overgrowth, heavy facial features, and mild to moderate mental handicap; a duplication of the chromosome region 4p16.3 was found in the four subjects studied. It is suggested that the growth abnormalities in these two families may be explained by a dosage effect of the fibroblast growth factor receptor gene 3 (FGFR3), which is located at 4p16.3, that is, a single dose leads to growth failure and a triple dose to physical overgrowth. We describe the molecular mapping of the translocation breakpoint and define it to within locus D4S43. |
| Databáze: | OpenAIRE |
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