PubMed · 4116277
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J E Gray. 1972-10-14. Interstitial translocations.. https://doi.org/10.1016/s0140-6736(72)92200-3
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Molecular methods can complement the classical methods in pathology like macroscopic, histological and immunohistochemical examinations.Comparative genomic hybridization is a cytogenetic method to screen for gains and losses of chromosomal material in tumor cells. This method allows defect studies of archival paraffin-embedded and formalin-fixed tumor material. CGH can detect gains and losses of chromosomal material that are at least 10 to 20 megabases in size. This genome-wide screening method allows to study the cytogenetic relationship between differently located tumors of a patient. To answer the question if these different tumors are metastases of the primary lung tumor or independent primary tumors CGH analysis is a supplementary method that introduces new prospectives.
We report on the clinical and cytogenetic data of a large family with an unbalanced insertion translocation (3;5)(q25.3;q22.1q31.3). Analysis of GTG-banded chromosomes demonstrated that unbalanced inheritance of a parental insertion translocation caused either a partial deletion or duplication 5q in this family. The derivative chromosomes were characterized further using microdissection and FISH with band-specific probes. The clinical picture of the proband with a partial deletion of chromosome 5 was characterized by moderate psychomotor retardation, mild facial dysmorphism, cleft palate, and single transverse crease. The family members with a partial duplication of chromosome 5 were borderline intelligent, had mild facial dysmorphism, a cardiac anomaly, and a high-pitched voice. The unbalanced carriers were compared with patients reported in the literature with a duplication or deletion of chromosome region 5q22.1 --> 5q31.3.
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