Partial 4q trisomy. Apropos of 3 cases.
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002905:Chromosomes, Human, 4-5; D003456:Cryptorchidism / Q000235:genetics; D003878:Dermatoglyphics; D004423:Ear / Q000002:abnormalities; D005143:Eyelids / Q000002:abnormalities; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D007668:Kidney / Q000002:abnormalities; D008046:Lip / Q000002:abnormalities; D008297:Male; D008831:Microcephaly / Q000235:genetics; D008844:Micrognathism / Q000235:genetics; D009667:Nose Deformities, Acquired; D014178:Translocation, Genetic; D014314:Trisomy
La trisomie 4g partielle. A propos de trois observations