engleski

Family balanced translocation (15 ; 16) detected through the child with unbalanced karyotype

Here we describe a case of a boy with 46, XY, der(15), t(15 ; 16)(q26 ; q22) karyotype which resulted from familial balanced translocation involving the terminal regions of 15q and 16q segregating in three generations. The child died at the age of three months. The translocations were identified using high-resolution karyotype analysis and confirmed by fluorescence in situ hybridization (FISH) analysis. The proband inherited the derivative chromosome 15 resulting in partial trisomy of 16q and partial monosomy of 15q. In the presented case clinical examination showed intrauterine growth retardation, hypertelorism, low set-ears. A balanced translocation was present in mother, two maternal cousins and grandfather. One cousin had two children ; both with unbalanced rearrangements. Other cousin had four children out of which only one boy inherited balanced translocation. Proband had two siblings: brother with a balanced translocation, and sister with 15q26-qter monosomy and 16q22-qter trisomy.

Translocation; Chromosome 15; Chromosome 16

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