PubMed · 8959684
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J P Charlieu, F Pellestor. 1997. Chromosome-specific PRINS.. https://doi.org/10.1385/0-89603-395-3%3A7
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Congenital midline cervical cleft (CMCC) is a rare disorder of the ventral neck that is clinically evident at birth and must be differentiated from the more common thyroglossal duct cyst. The case of CMCC presented here was associated with chromosomes 13/14 de novo Robertsonian translocations as well as midline deformities including a sacral tuft and a minor tongue-tie. The case is presented as well as discussion of histopathology, embryology, and surgical treatment.
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Individual pathologists deal with thousands of diagnostic biopsy and excision specimens annually. At each stage, procedures are in place to limit the possibility of human error, which could result in specimen transposition or contamination. One specimen contaminating another is usually easily identified and rarely causes diagnostic difficulty; however, when it does, the consequences can be very serious. We discuss 5 cases in which concerns over specimen identity and tissue contamination arose and the methodology by which we resolved those concerns. Polymerase chain reaction analysis of each case was carried out using a panel of 12 polymorphic microsatellite markers, specific for chromosomes 13, 18, and 21. These markers are routinely used in the molecular genetics diagnostic laboratory for rapid trisomy screening. In each case, the question of error was satisfactorily resolved. Using this approach, we prevented the real possibility of patients undergoing second invasive procedures. We suggest that this or a similar methodology become a routine part of pathology practice.