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Analysis of D/D translocations in man by differential staining

University of British Columbia

With the advent of new cytogenetic techniques, more questions can be answered concerning chromosomal rearrangements. The questions considered in this study ask which chromosomes are involved in the t(Dq Dq) translocation, where are the break points located, and what are the possible mechanisms of t(Dq Dq) translocation formation. The segregation pattern of the D/D translocation was considered when the chromosome translocation was shown to be familial. Chromosomes were obtained from leukocyte blood cultures and three differential staining techniques (Giemsa-banding, fluorescent-banding, C-banding) were used to identify the chromosomes involved in the D/D translocation. These techniques also allowed the break points in each chromosome to be estimated. Four families and a single spontaneous case were examined. The segregation pattern of the t(Dq Dq) translocation was discussed for the familial translocations. The possible mechanisms of formation of these D/D translocations was also discussed. The cytogenetic investigation revealed these general results . 1. A homologous t(14q;14q) chromosome, which appeared to be monocentric, was found in a male infant who was ascertained through an investigation of his short stature. 2. A homologous t(13q;13q) chromosome, which appeared to be dicentric, was found in a family who was ascertained through the birth of a male with numerous congenital malformations. 3. A t(13q;14q) translocation chromosome, which appeared to be dicentric, was found in a family who was ascertained through the birth of a mentally retarded male. 4. A t(13q;14q) translocation chromosome, which appeared to be monocentric, was found in a family who was ascertained through the birth of a mentally retarded male. 5. A t(13q;14q) translocation chromosome and a t(13p;14p) translocation chromosome was found in a family who was ascertained through the birth of a mentally retarded male.

Text

2010-01-29

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http://hdl.handle.net/2429/19349

Medical Genetics

University of British Columbia

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