Partial deletion of long arm of chromosome 11: del (11) (q23)

The cytogenetic analysis of an infant with multiple congenital anomalies revealed a small deletion of the long arm of one No. 11 chromosome: 46, XX, del(11)(q23). The main clinical manifestations included: ocular colobomata, absent philtrum, severe congenital heart disease, contractures of the large joints and skin pigmentation. Both parents showed a normal chromosome constitution. In comparison to the previously reported cases of 11q —, the patient presented here had more severe congenital anomalies. The correlation of the size of the deletion, and the location of the break, with the physical findings is discussed.