Familial Translocation t(5;15)(p14.2;q26.2) Causing a Mirror Combination of Several Known Genetic Conditions

Abstract

Two siblings with an unbalanced cytogenetic composition are described: a brother with partial trisomy 5p and distal 15q microdeletion, and a sister with partial monosomy 5p and distal 15q microduplication, resulting from a familial balanced translocation 46,XY; t(5;15)(p14.2;q26.2). To our best knowledge, there are no previous clinical and cytogenetic reports in the literature describing a family with concomitant presence of such a unique mirror combination. Clinical features of pure imbalances and the effects of their combination are discussed.

Keywords

chromosomal composition - microarray analysis - mental retardation

• References

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