Complete and partial trisomy of different segments of chromosome 8: case reports and review.
This report describes some of the clinical, chromosomal and radiological findings in three unrelated patients with trisomy 8 mosaicism syndrome (T8ms), two first cousins with trisomy 8q and a patient with trisomy 8p. On the basis of the phenotypic and cytogenetic findings seen in our six patients and those noted in previous reports, we concur with Riccardi & Crandall (1978) that most physical malformations seen in T8ms are associated with trisomy for the long arm of chromosome 8.
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009030:Mosaicism; D010375:Pedigree; D013577:Syndrome; D014314:Trisomy