In 7 patients with various anomalies of chromosome 13 coagulation, studies were performed. A 50% decrease of activities of factor VII and X were noted only in cases with deletion of 13 (q34) which supports the hypothesis that they are linked to this region.
A t(X;Y)(p223;q11) was studied in a mother and son who share features of Turner’s syndrome (short stature, mild brachymesomelia, unusual dermatoglyphics) as well as mental deficiency. In the majority of the mother’s cells the extra chromosome is late replicating. Ten previous cases are summarized, and the significance of Xp deletions is discussed.
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