论文信息 - Trisomy 2q and monosomy 11q in the same individual: the importance of considering the deleted segment

Trisomy 2q and monosomy 11q in the same individual: the importance of considering the deleted segment

A female infant with multiple dysmorphic features and developmental delay was found to have partial duplication of the long arm of chromosome 2 and partial deletion of the long arm of chromosome 11 derived from a paternal balanced translocation, 46,XY,t{2;ll)(q33:q25). Clinically, the infant had features of both 2q+ and llq– syndromes. The importance of considering both the duplicated and deleted segment in unbalanced products resulting from familial translocations is emphasized.

H. Ardinger | W. Rhead | S. Path

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