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Two cousins with trisomy for the distal third of 16q due to a familial translocation, t(16;21)(q22.2;q22.2), are reported. The APRT gene locus could be assigned to 16q22.2 to 16qter. The phenotypic similarities of the first patient, who had trisomy 16q22.3 to 16qter and monosomy 21q22.3, to six other patients with partial trisomy 16q reported in literature… (More)
A newborn male trisomic for 12p is compared with three other 12p trisomics already reported in the literature, as well as with three patients monosomic for 12p. A "type and countertype" opposition is observed for five characters: in the trisomy, turricephaly, shortness of the nose, protruding anthelix, wide palms, and increased LDH-B activity; in the… (More)
PURPOSE To prospectively evaluate the utility of computed tomography (CT) for determination of tumor response and prediction of resectability after neoadjuvant combined chemotherapy and radiation therapy (CRT) in patients with nonmetastatic locally advanced pancreatic cancer. MATERIALS AND METHODS This study received institutional review board approval,… (More)
A five-generation family is here reported in which several members developed malignant melanoma, dysplastic naevi, astrocytoma in all grades, benign or malignant schwannoma, neurofibroma, or meningioma in a single instance. Significant cosegregation of skin and nervous tumours, preclusion of allelism to type 1 neurofibromatosis and phenotypic departure from… (More)
The 45, X/47, XY, +13 mosaicism was observed in a 19-year-old mentally deficient girl who was examined because of primary amenorrhea. Certain clinical features were reminiscent of Turner's syndrome, while no features of trisomy 13 were present. The study of blood groups, HLA genotypes, and cytogenetic markers provided no evidence of chimerism.