PubMed · 14149216
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J F MCCAHEY. 1964-07-04. HERMAPHRODITISM.. https://doi.org/10.1016/s0140-6736(64)90054-6
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Extra structurally abnormal chromosomes (ESACs) and cryptic rearrangements are often associated with mental retardation and phenotypic abnormalities. In some cases their characterisation, using standard cytogenetic techniques and fluorescence in situ hybridization (FISH), is difficult and time consuming, where a fast and accurate identification is essential, especially when such chromosomal aberrations are found in prenatal diagnosis. A recent molecular technique, spectral karyotyping (SKY), based on the spectral signature of 24 chromosome-specific painting probes labelled with different combinations of five fluorochromes, allows the simultaneous visualisation of all human chromosomes in different colours. We used SKY analysis on 14 cases with rare ESACs or cryptic unbalanced rearrangements found at pre- or postnatal diagnosis. SKY analysis permitted the classification of chromosome rearrangements in all 14 cases analysed in combination with FISH analysis.
Teratomas are uncommon neoplasms comprised of mixed dermal elements derived from the three germ cell layers. Historically, teratomas were attributed to demons, sexual misconduct, and abnormal fertilization. They attract attention because of their bizarre histology and gross appearance. While the majority of teratomas present congenitally in the sacrococcygeal region, within the ovaries of adolescent females and within the testes of young men, they have been identified throughout the body. Extragonadal teratomas tend to occur in midline structures as the anterior mediastinum, retroperitoneum, sacrococcygeal region, and pineal gland. Retroperitoneal teratomas represent only 1-11% of primary retroperitoneal tumors. Incidence is bimodal with peaks in the first 6 months of life and in early adulthood. Due to their location, they are usually identified only after they have grown to huge proportions. There is a 25% chance of malignancy. Surgical resection remains the mainstay of therapy and is required for definitive diagnosis. This article reviews the literature on the histopathology, classification, genetic abnormalities, and theories of origin of teratomas as well as the presentation, diagnosis, and management of retroperitoneal teratomas.
Abnormalities in the long arm of chromosome 7 are a frequent chromosomal aberration in myeloid disorders. Most studies have focused on the analysis of del(7q), demonstrating the presence of several minimal deleted regions in 7q22 approximately q31. By contrast, few studies in myeloid disorders have been devoted to the analysis of translocations, either balanced or unbalanced, involving 7q. In this study, we used fluorescence in situ hybridization (FISH) to characterize the 7q31.3 approximately q34 region (markers D7S480-D7S2227) in patients with deletion or translocation of 7q. A total of 910 cases of myeloid disorders were studied by conventional cytogenetics. Fifty-eight (6%) patients had structural aberrations of 7q. FISH studies were carried out in the 27 patients with involvement of 7q31 approximately q34: 14 cases had an acute myelogenous leukemia and 13 cases had a myelodysplastic syndrome. FISH analysis revealed the existence of high complexity in the 7q31.3 approximately q34 region in patients with unbalanced translocations. No breakpoints in 7q31.3 approximately q34 were found in the cases with deletion or balanced translocation. Nevertheless, studies of unbalanced translocations showed several breakpoints in markers D7S480-D7S2227, which delineate a commonly altered region. The complexity of 7q rearrangements suggests that a synergy of different genetic factors, rather than the alteration of a single tumor suppressor gene, could be involved in the pathogenesis of del(7q) in myeloid disorders.