A severely mentally subnormal child with many physical stigmata was shown to have the karyotype 46,XY,-2,+der(2),t(2;10)(q31;q24)pat. Full evaluation of this patient's karyotype depended on the family studies. It was shown that a balanced translocation t(2,10) was present in 4 normal males in 3 generations.

PURPOSE Although tumor stage is considered a prognosticfeature for ovarian clear cell adenocarcinomas (OCCAs), it is not likely to fully account for the clinical and biological variability characteristic of the disease. The aim of this study was to investigate aberrations of DNA copy number in OCCA tumors and identify genetic markers that would increase our understanding of the pathogenesis of ...

The ETV6/GOT1 fusion, resulting from t(10;12) (q24;p13), has been recently described in a myelodysplastic syndrome. We reported a second case of t(10;12)-positive myelodysplastic syndrome in whom fluorescent in situ hybridization confirmed the non-random translocation but molecular biology analyses revealed a ETV6/GOT1 chimera varying from the first case described.

Cytogenetic investigation of endometrial polyps revealed the presence of a t(6;14)(p21;q24) as the sole abnormality in three cases. All tumors showed a histopathological pattern of predominant stromal hyperplasia with scarce representation of glandular elements, suggesting that a cytogenetic subgroup characterized by the t(6;14) translocation can be associated with endometrial polyps with a pre...

A patient with idiopathic hypogonadotropic hypogonadism (IHH) had an apparently balanced reciprocal translocation involving chromosomes 13 and 16 [t(13;16)(q14.11;q24)]. The patient's father has the same chromosomal translocation with no apparent physical abnormalities. The role of the chromosomal translocation in this patient is discussed.

We report a case of an intramuscular lipoma with the following karyotype: 46,XY,t(12;14) (q14–15;q24). To our knowledge, this is the third report of a t(12;14) as a sole abnormality in a lipoma. © Elsevier Science Inc., 1998

Purpose: Although tumor stage is considered a prognostic feature for ovarian clear cell adenocarcinomas (OCCAs), it is not likely to fully account for the clinical and biological variability characteristic of the disease. The aim of this study was to investigate aberrations of DNA copy number in OCCA tumors and identify genetic markers that would increase our understanding of the pathogenesis o...

B-cell lymphomas with recurrent cytogenetic rearrangements affecting the chromosomal loci of MYC (8q24) and either BCL2 (18q21) and/or BCL6 (3q27) are referred to as doubleor triple-hit lymphomas. Most frequently, these three oncogenes are rearranged with the immunoglobulin (IG) genes, and chromosomal translocations affecting either one of the three IG loci as a partner are readily recognized b...

The systemic impact of severe burn injury results in a variety of disorders that require therapeutic intervention. Propranolol, a nonselective β1, β2-adrenergic receptor antagonist, reduces resting heart rate and cardiac work caused by elevated circulating catecholamines. Oxandrolone, a testosterone mimetic, promotes protein synthesis and anabolism to counter muscle wasting. Coadministration of...

PURPOSE To report identification of a COL17A1 mutation in a family with a corneal dystrophy previously mapped to chromosome 10q23-q24. METHODS Whole-exome sequencing was performed on DNA samples from five affected family members and two unrelated, unaffected individuals. Identified variants were filtered for those that were: located in the linked interval on chromosome 10q23-q24; novel or rar...