Follicular lymphoma (FL) is characterized by the t(14;18)(q32;q21) chromosomal translocation which can be detected by polymerase chain reaction (PCR) in approximately 70% of cases. The aim of our retrospective study was to evaluate the sensitivity and the reproducibility of both conventional qualitative and quantitative PCR assays for detection of the t(14;18)(q32;q21) chromosomal translocation...

A 22-year-old man sought medical advice for a swelling in the right side of the neck in December 2011. Histopathological examination of the lymph node biopsy initially suggested reactive lymphadenitis, on account of the only sparse presence of tumor cells. Bone marrow examination was performed in February 2012 revealed findings consistent with a diagnosis of T-cell lymphoblastic leukemia/lympho...

INTRODUCTION The co-occurrence of ring chromosome 13 syndrome and 47, XYY syndrome in the same individual is rare. To the best of our knowledge, this is the first report of the co-existence of this kind of chromosome aberrations. At present, the deletion 13q syndrome is divided into three groups based on the deletion's location relative to chromosomal band 13q32. Group 1 (proximal to q32) and g...

Sjögren's syndrome (SS) is a chronic slowly progressive autoimmune disorder characterized by symptoms of oral and ocular dryness, exocrine dysfunction, and lymphocytic infiltration of exocrine glands. Multiple myeloma (MM) is a bone-marrow-based malignant neoplasm of plasma cells associated with serum/urine monoclonal paraproteins and lytic skeletal lesions. There have been very few reported ca...

AIMS To describe the clinical features and genetic findings in two families presenting with microcoria inherited as an autosomal dominant trait. METHODS Both affected and unaffected members of two families displaying familial microcoria were examined. Flash photography or infrared pupillography were used to assess pupils, and a full ophthalmic examination including visual acuity and field tes...

Because plasma cell leukemia (PCL) is a rare and distinct variant among plasma cell dyscrasias, recent clinical and cytogenetic studies have been performed in different ethnic groups to define the characteristics of these PCL patients. As far as we know, IGH rearrangements involving t(11;14) and (14;16) are significantly more frequent in PCL than in myeloma patients. However, PCL cases associat...

A 76-year-old man presented with right shoulder pain, weight loss, and night sweats. Complete blood count showed isolated thrombocytopenia (26 3 10/L). The blood film demonstrated medium to large atypical lymphoid cells (12% of leukocytes), many with polylobated nuclei or flower cell morphology (panel A, image obtained using Olympus BX51 microscope, 31000 magnification). Computerized tomography...

Two unrelated children are described with a partial trisomy 7 (q32----qter). Their phenotypes are compared with other reported cases with both this trisomy and others of the 7q arm. Several apparently useful pathognomonic features are distinguished. The phenotypic variability between trisomic persons within and between families is discussed. It is suggested that the disparate monosomies always ...

Forty-four B-chronic lymphocytic leukemias (CLL) were studied by Southern blot analysis using probes for the Ig genes and bcl-1, bcl-2 (major, minor and 5' breakpoint region), bcl-3, c-myc, and retinoblastoma (Rb) loci. Eight cases had three or more rearranged JH bands, indicating oligoclonality, clonal evolution, or chromosomal translocation. One case had a rearrangement of the bcl-1 locus and...

Cardiology, Hofstra North Shore-LIJ School of Medicine, Manhasset, NY, USA Full list of author information is available at the end of the article Figure 1 A1. A DIR TSE image demonstrates fat in the atrioventricular groove as well as a non-fat-based mass at the mitral annulus. A2. The corresponding T1 map shows a mass with a relatively low T1 value (417 ms) consistent with mitral annular calcif...