Tertiary trisomy due to a reciprocal translocation of chromosomes 5 and 21 in a four-generation family.

Tertiary trisomy, or double trisomy, is a rare occurrence. We present two individuals with a previously unreported tertiary trisomy for chromosomes 5p and 21q in an eight-generation pedigree. Their phenotypes are compared with other partial trisomies of either 5p or 21q from the literature. The propositus was diagnosed with trisomy 21 at 2 years of age after a karyotype study for short stature and developmental delay. His phenotype was described as atypical for Down syndrome. He presented at 9 years of age because of pervasive behavioral problems and obesity. He was brachycephalic with a flattened nasal bridge, but he lacked other characteristics of trisomy 21. Because of lack of phenotypic evidence of Down syndrome, a repeat karyotype was obtained and showed 47,XY, +der(21)t(5;21)(p15.1; q22.1), incorporating partial trisomies of both chromosomes 5 and 21. Mother had a balanced translocation, 46, XX,t(5;21)(p15.1; q22.1); 8 other relatives were examined. The translocation originated from the maternal great-grandmother, but only the propositus and his mentally retarded aunt had a similar phenotye and the derivative chromosome. Fluorescence in situ hybridization showed absence of band 21q22.2 in the derivative chromosome of the propositus and his aunt, indicating that neither had trisomy for the Down syndrome critical region. These cases represent a unique double partial trisomy of chromosome arms 5p and 21q that occurred because of 3:1 malsegregation of a reciprocal translocation. These cases further demonstrate that phenotypic discordance with cytogenetic results dictate further investigation using advanced cytogenetic hybridization.

Surgical oncology of the pelvis: ostomy planning and management.

Advanced pelvic surgery may result in the formation of a colostomy, ileostomy, urostomy, or multiples of these stomas. Stomas may be created because of a planned therapeutic attack to eradicate cancer or manage complications arising from treatments or they may be constructed to palliate severe symptoms or life-threatening problems. In some instances, fistulae between various organs and the skin may occur. Special skills are required to meet the needs of patients with ostomies or fistulae. The often complex care presents critical challenges to nurses, particularly in today's cost-conscious health care environment where prompt hospital discharges, brief clinic appointments, and valuable but limited home care visits are the norm. The skills of the enterostomal therapy nurse are valuable in all phases of care of these patients, from preoperative to outpatient care.

Relative frequencies and sites of presentation of lymphoid neoplasms in a community hospital according to the revised European-American classification.

Relative frequencies for common subtypes in the revised European-American classification of lymphoid neoplasms (REAL classification) have been reported. We determined the relative frequencies and sites of presentation of REAL subtypes at a 700-bed community hospital in central Illinois. A database was used to identify and prospectively catalogue all newly diagnosed lymphoid neoplasms from July 1, 1995 to March 1, 1998. The approach to diagnosis and subtyping incorporated morphologic features, immunophenotype, and clinical findings according to criteria proposed in the REAL classification. Of 347 lymphoid neoplasms diagnosed, 319 were subtyped in the REAL classification. Of these, 261 were B-cell neoplasms, 21 were T-cell neoplasms, and 37 were Hodgkin disease variants. Chronic lymphocytic leukemia/small lymphocytic lymphoma/prolymphocytic leukemia, diffuse large cell, and follicle center neoplasms were the most common B-cell subtypes. Large granular lymphocyte leukemia was the most common T-cell neoplasm. Nodular sclerosis was the most common Hodgkin disease variant. The relative frequencies in a US community hospital setting are similar to those reported in other studies. Differences are attributable to patient selection criteria, study group geographic location and racial composition, and/or referral patterns. Diverse REAL classification subtypes may be expected in US community hospitals.