5q31.3.
| Entry Date(s): |
Date Created: 20040917 Date Completed: 20050208 Latest Revision: 20200930 |
| Update Code: |
20240829 |
| DOI: |
10.1002/ajmg.a.20568 |
| PMID: |
15372532 |
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| Autor: |
Arens YH; Research Institute Growth and Development, University of Maastricht, Maastricht, 62 MD Maastricht, The Netherlands. vvone.arens@qen.unimaas.nl, Engelen JJ, Govaerts LC, van Ravenswaay CM, Loneus WH, van Lent-Albrechts JC, van der Blij-Philipsen M, Hamers AJ, Schrander-Stumpel CT |
| Jazyk: |
angličtina |
| Zdroj: |
American journal of medical genetics. Part A [Am J Med Genet A] 2004 Oct 01; Vol. 130A (2), pp. 128-33. |
| DOI: |
10.1002/ajmg.a.20568 |
| Abstrakt: |
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: |
MEDLINE |
| Externí odkaz: |
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