OBJECTIVE To determine an unusual complex chromosome rearrangement found in a man with oligospermia with a normal phenotype. DESIGN Case report with a review of the literature. SETTING Academic research environment. PATIENT(S) A man with oligospermia but otherwise apparently healthy. INTERVENTION(S) Peripheral blood lymphocytes were used for karyotyping, and metaphases were analyzed by ...

We previously showed by cytogenetics and fluorescence in situ hybridization (FISH) that the most common chromosomal abnormality in renal oncocytomas is loss of chromosome 1 or 1p. In the present study, we evaluated chromosome 1 by loss of heterozygosity (LOH) studies. DNA was extracted from paraffin sections. Three microsatellite markers were used: D1S508, D1S199, and D1S2734. The regions targe...

We report here a case of a newborn with hypotrophy and somatic stigmatization: microcephaly, facial dysmorphism, heart defect and immunodeficiency syndrome. The proband's karyotype was 46,XY,dup(4)(q28q35.2) de novo with chromosomal breaks in 4% of metaphases. We demonstrate the usefulness of a combination of physical examination, classical cytogenetics, FISH and PCR techniques in order to esta...

Recent years have witnessed rapid advances in molecular cytogenetics and its impact in studying mental retardation (MR). We review new molecular cytogenetic methods, including interphase fluorescence in situ hyrbridization (FISH), comparative genomic hybridization (CGH), multicolor karyotyping, telomere FISH, primed in situ labeling (PRINS), genotyping, microdissection, and microarray for the e...

Fluorescence in situ hybridization (FISH) probe for the identification of the Philadelphia (Ph) translocation [t(9;22) (q34;q11)] in chronic myelogenous leukemia cells was developed by inter-Alu-polymerase chain reaction of DNA from an interspecific somatic cell hybrid containing approximately 5 Mb of human DNA covering the ABL gene region on human chromosome 9q34. This probe was large enough t...

A 26-year-old male was evaluated for chest pain and was found to have a white cell count of 63 000 per cubic millimeter, hemoglobin 10.5 g/dL, platelets 102 000 per L, with 18% blasts and promyelocytes (panel A). Bone marrow was hypercellular, with promyelocytes and myeloblasts (panel B), some with deeply clefted nuclei. This was morphologically consistent with acute promyelocytic leukemia hype...

We report a 10-years-old female patient with a partial trisomy 18q and monosomy 11q due to a maternal translocation. The phenotype of our proband is partially common with Jacobsen syndrome and duplication 18q but she has also some atypical anomalies such as precocious puberty, a retinal albinism and hypermetropia. Based on cytogenetics and FISH analysis, the karyotype of the proband was 46,XX,d...

1 Bone marrow aspirate and trephine biopsy unless the peripheral blast count is high. 2 Immunophenotyping [CD3, CD7, CD13, CD14, CD33, CD34, CD64, CD117 and cytoplasmic myeloperoxidase (MPO)]. 3 Cytochemistry (MPO or Sudan Black, combined esterase). Can be omitted if four-colour flow cytometry is available. 4 Cytogenetics [with reverse-transcription polymerase chain reaction (RT-PCR) for AML 1-...

A 45-year-old man from El Salvador with no past medical history presented cough and chest pain. Investigations revealed 60% peripheral eosinophilia (absolute count 12.3 K/uL). Cardiac imaging was consistent myocarditis intracardiac thrombus formation. Endomyocardial biopsy confirmed eosinophilic infiltration of the myocardium, bone marrow showed hypercellular 28% eosinophils. Cytogenetics/fluor...