[De novo appearance of a partial trisomy 1q in mosaic due to a 1;9 translocation].
A child with trisomy 1q24----qter is described. This syndrome is compared to other 1q partial trisomies. An association is proposed between these trisomic segments and the following phenotypic signs: microphtalmia, trigonocephaly, hypertrichosis, antimongoloid eye slants, anomalies of the biliary tract, and malformations of the central nervous system.
D000015:Abnormalities, Multiple / Q000235:genetics; D002900:Chromosomes, Human, 1-3 / Q000648:ultrastructure*; D002906:Chromosomes, Human, 6-12 and X / Q000648:ultrastructure*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D013577:Syndrome; D014178:Translocation, Genetic; D014314:Trisomy
Apparition de novo d'une trisomie 1q partielle en mosaïque par translocation 1;9.