Partial chromosomal 11q trisomy as an unbalanced result of t(11;13)(q23.1;q34)mat in two sisters. |
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| Authors: | Jia-Woei Hou |
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| Institution: | Department of Pediatrics, Chang Gung Children's Hospital, Taoyuan, Taiwan. |
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| 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 months and 6 months, respectively. Chromosome analyses showed a distal trisomy 11q resulting from maternal t(11;13)(q23.1;q34). Fluorescence in situ hybridization using the painting probes for chromosomes 11 and 13, along with a unique sequence for mixed lineage leukemia (MLL) gene confirmed this condition. The phenotypes of both sisters are most likely to be related to partial trisomy of 11q and a triplicated gene dosage of MLL. |
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