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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D003286:Contracture / Q000151:congenital; D005124:Eye Abnormalities; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007596:Joints / Q000002:abnormalities; D008046:Lip / Q000002:abnormalities; D010859:Pigmentation Disorders / Q000151:congenital; D013577:Syndrome