Partial chromosomal 11q trisomy as an unbalanced result of t(11;13)(q23.1;q34)mat in two sisters.

  • Jia-woei Hou
  • Published 2004 in
    Journal of the Formosan Medical Association…

Abstract

Partial trisomy of chromosome 11q is a rare but rather distinct clinical syndrome. Cases of distal trisomy of chromosome 11(q23.1-qter) in 2 sisters are described. The features included microbrachycephaly, long philtrum, retracted lower lip, short neck, heart defects, marked leukocytosis, and psychomotor retardation. These patients died at the age of 3… (More)

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