Familial insertion (3;5)(q25.3;q22.1q31.3) with deletion or duplication of chromosome region 5q22.1-5q31.3 in ten unbalanced carriers
| ISSN: | 0148-7299 |
|---|---|
| Přístupová URL adresa: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98ae2deb173863cdb36b7317cd5e430a https://hdl.handle.net/2066/58459 |
| Rights: | RESTRICTED |
| Přírůstkové číslo: | edsair.doi.dedup.....98ae2deb173863cdb36b7317cd5e430a |
| Autor: | Yvonne Arens, M. van der Blij-Philipsen, C.M. van Ravenswaay, W.H. Loneus, J. J. M. Engelen, A.J.H. Hamers, Ctrm Schrander-Stumpel, Lutgarde C.P. Govaerts, J.C.M. van Lent-Albrechts |
| Rok vydání: | 2004 |
| Předmět: |
Male
Proband Heterozygote Chromosomal translocation Biology Translocation Genetic Gene mapping Gene Duplication Chromosome regions Gene duplication medicine Humans In Situ Hybridization Fluorescence Genetics (clinical) Microdissection Chromosome Aberrations Family Health Genetics Psychomotor retardation Chromosome Chromosome Banding Pedigree Genetic defects of metabolism [UMCN 5.1] Karyotyping Chromosomes Human Pair 5 Female Chromosomes Human Pair 3 Chromosome Deletion medicine.symptom |
| Zdroj: | American Journal of Medical Genetics, 130A, 2, pp. 128-33 American Journal of Medical Genetics, 130A, 128-33 |
| ISSN: | 0148-7299 |
| Popis: | Item does not contain fulltext We report on the clinical and cytogenetic data of a large family with an unbalanced insertion translocation (3;5)(q25.3;q22.1q31.3). Analysis of GTG-banded chromosomes demonstrated that unbalanced inheritance of a parental insertion translocation caused either a partial deletion or duplication 5q in this family. The derivative chromosomes were characterized further using microdissection and FISH with band-specific probes. The clinical picture of the proband with a partial deletion of chromosome 5 was characterized by moderate psychomotor retardation, mild facial dysmorphism, cleft palate, and single transverse crease. The family members with a partial duplication of chromosome 5 were borderline intelligent, had mild facial dysmorphism, a cardiac anomaly, and a high-pitched voice. The unbalanced carriers were compared with patients reported in the literature with a duplication or deletion of chromosome region 5q22.1 --> 5q31.3. |
| Databáze: | OpenAIRE |
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