title: Partial trisomy 11q due to paternal t(11q;18p); further delineation of the clinical picture.
abstract: We describe an eleven-months-old girl with a partial trisomy 11q due to a paternal t(11;18)(q142;p1131). Clinical symptoms include severe psychomotor retardation, microcephaly, cleft palate, large, beaked nose, micrognathia, short hands and proximally placed thumbs. Moreover, a partial agenesis of the callosal body and a perineal mid-line malformation are present. The clinical picture of the index case is compared with relevant findings in patients with a partial trisomy (11q) and partial monosomy (18p) (Aksu 1977).
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002871:Chromosome Banding; D002902:Chromosomes, Human, 16-18; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D011596:Psychomotor Disorders / Q000235:genetics; D014178:Translocation, Genetic; D014314:Trisomy