Phenotype of partial trisomy 8 (p21 leads to qter) in two unrelated patients with de novo translocation.
Two unrelated patients with a de novo partial trisomy 8 (q21 leads to qter) are presented. They had strikingly similar phenotypes, characterised by a wide face with hypertelorism, a broad based nose, malformed ears, micrognathia, and a very short neck. A cleft palate, cardiac defects, and hydronephrosis were present in both patients. The relation between the 8qter syndrome and trisomy 8 (Warkany syndrome) is discussed.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy