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Trisomy 2q and monosomy 11q in the same individual: the importance of considering the deleted segment
Author(s) -
Ardinger H. H.,
Path S. R.,
Rhead W. J.
Publication year - 1987
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1987.tb02828.x
Subject(s) - chromosomal translocation , monosomy , partial trisomy , long arm , genetics , trisomy , chromosome , biology , gene duplication , karyotype , gene
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.