Radiofrequency treatment in the United States.
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Journal Article↗
Biomedical subjects
F Luthardt
Publications and source records attributed to F Luthardt.
Follow-up of a familial translocation t(10;16) with an unusual segregation pattern.
Bofinger et al. [Am J Med Genet 38:1-8, 1991] reported on a four-generation family with an unusual segregation pattern involving a translocation t(10;16)(q26.3;p13.1). All relatives either had a balanced or unbalanced translocation. We report on five additional relatives, none of whom have a normal karyotype. This unusual segregation pattern may be due to chance or be the result of meiotic drive.
Abnormalities, Multiple↗
A second autosomal split hand/split foot locus maps to chromosome 10q24-q25.
Ectrodactyly (split hand/split foot malformation, SHSF) is a human limb malformation characterized by absent central digital rays, deep median cleft, and syndactyly of remaining digits. The disorder is genetically heterogeneous, with at least two loci thus far determined: an autosomal locus at 7q21 designated SHFM1 and an X-linked locus at Xq26 designated SHFM2. Cytogenetic analysis of sporadic SHSF patients and linkage studies in extended pedigrees both suggest more than one autosomal locus exists. We report a novel SHSF locus suggested by a stillborn infant with ectrodactyly and other malformations who inherited an unbalanced translocation resulting in monosomy 4p15.1-4pter and trisomy for 10q25.2-qter. To investigate 10q25 as a possible split hand/split foot locus, microsatellite markers spanning 52 cM of 10q were utilized for linkage analysis of a large autosomal dominant SHSF pedigree in which the region encompassing SHFM1 previously was excluded as containing the causative mutation. The marker D10S583 was fully informative in the family, giving a maximum LOD score of 4.21 at recombination theta = 0.00. Recombination haplotypes define the 9 cM region between D10S541 and D10S574 as inclusive for this second autosomal SHSF locus, for which we propose the designation SHFM3.
Abnormalities, Multiple↗
Prenatal diagnosis of tetraploidy: a case report.
We report on the second trimester prenatal diagnosis of an apparently nonmosaic tetraploid fetus, 92,XXYY. Indications for cytogenetic studies of the fetus included abnormal ultrasound findings and abnormal maternal serum levels of alpha-fetoprotein (AFP)/estriol. Chromosome analysis of amniocytes documented tetraploidy, a finding confirmed by flow cytometry of several fetal tissues. Autopsy findings in the fetus are compared with those of other cases of tetraploidy. To our knowledge this is the first reported prenatal diagnosis of a tetraploid fetus. Additionally, it illustrates the value of flow cytometric analysis of products of conception in which polyploidy is suspected.
Abnormalities, Multiple↗
Trisomy 8 in primary esthesioneuroblastoma.
Esthesioneuroblastoma is a rare malignancy believed to be derived from neuroectodermal stem cells within the olfactory epithelium. We have obtained the karyotype of a primary esthesioneuroblastoma following brief (7-day) in vitro culture, and have determined that the only observable cytogenetic anomaly is the presence of an additional chromosome 8. Previously, the karyotypes of two cell lines established from metastatic esthesioneuroblastomas have been reported to contain the equivalent of three copies of chromosome 8, in addition to other chromosomal aberrations, including the reciprocal translocation, t(11;22)(q24;q12). Examination of the cytogenetic literature suggests that an extra copy of chromosome 8 is a common occurrence in undifferentiated small round cell tumors frequently observed to carry the t(11;22), including esthesioneuroblastoma, Ewing's sarcoma, peripheral neuroepithelioma, Askin's tumor, and rhabdomyosarcoma. These data, combined with our report of a small round cell tumor with the karyotype 47,XY, +8, indicate that trisomy 8 may be a common phenomenon in these tumors, and may also provide some sort of selective advantage to these tumor types.
Chromosome Aberrations↗
Ring chromosome 6: variability in phenotypic expression.
We present four children with a ring chromosome 6. Clinically, these cases are quite variable. A review of ten previously reported cases also suggests difficulty of phenotype-karyotype correlation in patients with a ring 6.
Adult↗