| Literature DB >> 238457 |
B Dutrillaux, C Laurent, A Forabosco, B Noel, E Suerinc, M C Biemont, J B Cotton.
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.Entities:
Mesh:
Year: 1975 PMID: 238457
Source DB: PubMed Journal: Ann Genet ISSN: 0003-3995