Case Reports
[Partial 4q trisomy. Apropos of 3 cases]
[Article in
French]
- PMID: 238457
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Case Reports
[Partial 4q trisomy. Apropos of 3 cases]
[Article in
French]
Ann Genet.
1975 Mar.
Abstract
Three observations of partial trisomy 4q are reported: the first due to a familial translocation the second to a de nove translocation, the third to a "mirror" duplication. The very characteristic phenotype is compared to that of 4 other patients already reported in the literature. The most evocatory symptoms include: absent or poorly indicated nose bridge; pursed lips; shortness of the philtrum; and constant existence of a fold on the antitragus continuing the anthelix reachinghe insertion of the pinna.
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