Deletion of 2q37 and duplication of 10q24: Two cases in the same family and review of the literature
| Autor: | P M Czarnecki, D. L. Van Dyke, G.L. Feldman, E.V. Bawle, J.V. Conard, Anne E. Wiktor |
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| Rok vydání: | 2001 |
| Předmět: |
Male
medicine.medical_specialty Adolescent Foot Deformities Congenital Chromosomal translocation Biology Translocation Genetic Head shape Gene Duplication Gene duplication Genetics medicine Humans In Situ Hybridization Fluorescence Nose Family Health Hand deformity medicine.diagnostic_test Chromosomes Human Pair 10 Cytogenetics Facies Infant Karyotype Syndrome medicine.disease Chromosome Banding Pedigree medicine.anatomical_structure Chromosomes Human Pair 2 Face Karyotyping Female Chromosome Deletion Hand Deformities Congenital Fluorescence in situ hybridization |
| Zdroj: | Annales de Génétique. 44:129-134 |
| ISSN: | 0003-3995 |
| Popis: | We describe two patients (first cousins, once removed) with an unusual head shape, high arched palate, flat nasal bridge, abnormal ears, hand and feet abnormalities and other anomalies. The patients were ascertained independently and it was initially unknown that they were related to each other. Cytogenetic and fluorescent in situ hybridization (FISH) analysis identified a der(2)t(2;10)(q37.3;q24.1) unbalanced translocation resulting in loss of 2q37.3-qter and duplication 10q24.1-qter. The clinical features of these two patients are compared with previously described cases of 2q deletion and 10q duplication. These patients also emphasize the difficulty in some families of understanding and sharing genetic information and in the difficulties in obtaining an accurate pedigree in a genetics clinic. |
| Databáze: | OpenAIRE |
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