THE HUMAN CHROMOSOMAL SATELLITES IN NORMAL PERSONS AND IN TWO PATIENTS WITH MARFAN'S SYNDROME

Abstract

Human chromosomal complements have been found with 6 instead of 4 satellites. These observations reconcile one of the contradictions in the literature dealing with the human karyotype, and raise the possibility that the higher figure may be a common or possible universal satellite number in man. Chromosomes of 3 patients with a diagnosis of Marfan''s syndrome have been described. One patient, with no familial history of the disease, revealed a normal chromosomal constitution. The other two patients'' genealogies exhibited the typical pattern of a simple dominant, autosomal defect. Both patients chromosomes demonstrated a single, abnormally enlarged satellite, in the one case on a chromosome of pair number 18, and in the other on number 21.