![]() ![]() Samples of buccal mucosa, hair follicles, and skin were obtained samples of formalin-fixed thyroid tissue were obtained from a previously excised benign thyroid nodule and bladder tissue was obtained during cystoscopy. Additional laboratory investigations were performed, with the patient's written informed consent. On examination, she was a phenotypically normal female without abnormal pigmentation of the skin or eyes. The results suggested that the patient could not be the biologic mother of two of her three sons, who had her husband's HLA haplotype and a unique collection of HLA determinants, instead of one of the expected maternal haplotypes ( Figure 1). In preparation for kidney transplantation, the patient and her immediate family underwent histocompatibility testing ( Figure 1A). In contrast, thyroid-tissue samples had a preponderance of haplotypes 2 and 4 and smaller amounts of haplotypes 1 and 3.Ī 52-year-old woman had renal failure as a result of focal sclerosing glomerulonephritis. ![]() On the basis of a visual analysis of the signal strength, hair-follicle samples showed a preponderance of DNA associated with haplotypes 1 and 3 and a smaller amount of DNA associated with haplotypes 2 and 4. Only haplotypes 1 and 3 were evident in the blood sample. The probe sequences included 5'GAGACGGCCCATGAGGCG3' in the case of HLA-A*66, 5'TATTGGGACGGGGAGACA3' in the case of HLA-A*02, 5'GAGGTATTTCGACACCGCC3' in the case of HLA-B*08, and 5'ATCTGCAAGGCCAAGGCA3' in the case of HLA-B*27. In Panel B, polymerase chain reaction and sequence-specific oligonucleotide-probe hybridization were used for haplotyping. The proband's father was deceased, and his haplotypes, shown in parentheses in Panel A, were deduced from studies of the other family members. Pedigree and Results of HLA Haplotyping of Blood Samples from the Patient and Her Family (Panel A) and of the Samples of Blood, Hair Follicle, and Thyroid from the Patient (Panel B). We describe a phenotypically normal woman in whom tetragametic chimerism was unexpectedly identified after histocompatibility testing of family members suggested that she was not the biologic mother of two of her three children. 8-17 Affected persons are identified by the finding of two populations of red cells 9 or ambiguous genitalia and hermaphroditism, 11,15,16 alone or in combination such persons sometimes also have patchy skin or eye pigmentation. 3 Examples have been found in mice 4 and other mammalian species, 5-7 including humans. A less common cause of congenital chimerism - so-called tetragametic chimerism - occurs through the fertilization of two ova by two spermatozoa, followed by the fusion of the zygotes and the development of an organism with intermingled cell lines. In fraternal twins, chimerism occurs by means of blood-vessel anastomoses. The most trusted, influential source of new medical knowledge and clinical best practices in the world.Ĭhimerism, the presence of two genetically distinct cell lines in an organism, either is acquired through the infusion of allogeneic hematopoietic cells during transplantation 1 or transfusion 2 or is inherited. Information and tools for librarians about site license offerings. Valuable tools for building a rewarding career in health care. The authorized source of trusted medical research and education for the Chinese-language medical community. The most advanced way to teach, practice, and assess clinical reasoning skills. ![]() ![]() Information, resources, and support needed to approach rotations - and life as a resident. The most effective and engaging way for clinicians to learn, improve their practice, and prepare for board exams. NEW! Peer-reviewed journal featuring in-depth articles to accelerate the transformation of health care delivery.Ĭoncise summaries and expert physician commentary that busy clinicians need to enhance patient care. NEW! A digital journal for innovative original research and fresh, bold ideas in clinical trial design and clinical decision-making. ![]()
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