Although they do not have signs of Patau syndrome, people who carry this type of balanced translocation are at an increased risk of having children with the condition.
12.
Rare exceptions may include the presence of a balanced translocation of the X chromosome in a parent, or where the mother has 45, X mosaicism restricted to her germ cells.
13.
Cytogenetic analysis of myeloma cells may be of prognostic value, with deletion of chromosome 13, non-hyperdiploidy and the balanced translocations t ( 4; 14 ) and t ( 14; 16 ) conferring a poorer prognosis.
14.
Haploinsufficiency of SIM1 has been shown to cause severe early-onset obesity in a human girl with a de novo balanced translocation between chromosomes 1p22.1 and 6q16.2 and has been suggested to cause a Prader-Willi-like phenotype in other cases.
15.
Array-based karyotyping cannot detect balanced translocations, such as t ( 4; 14 ) seen in ~ 15 % of MM . Therefore, FISH for this translocation should also be performed if using SNP arrays to detect genome-wide copy number alterations of prognostic significance in MM.
16.
Array-based karytyping cannot detect balanced translocations, such as t ( 4; 14 ) seen in ~ 15 % of MM . Therefore, FISH for this translocation should also be performed if using SNP arrays to detect genome-wide copy number alterations of prognostic significance in MM.
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