Supernumerary chromosomes in the pufferfish Sphoeroides spengleri: first occurrence in marine Teleostean Tetraodontiformes fish

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

A case of Zimmermann-Laband syndrome with supernumerary teeth

Background: Zimmermann-Laband syndrome is a rare autosomal dominant disorder that is characterized by gingival fibromatosis, ear, nose, bone, and nail defects, and hepatosplenomegaly.Methods: This case report describes the clinical presentation and periodontal findings in a 13-year-old female patient with previously undiagnosed Zimmermann-Laband syndrome.Results: Clinical and radiographic findings and genetic counseling confirmed the diagnosis of Zimmermann-Laband syndrome. The most striking oral findings were the presence of gingival enlargement involving both the maxillary and mandibular arches, anterior open bite, non-erupted teeth, and two supernumerary teeth. Periodontal treatment consisted of gingivectomy in four quadrants. Histopathologic evaluation of excised tissue supported the diagnosis of gingival fibromatosis. The patient was referred for appropriate orthodontic treatment and genetic counseling, and has been closely followed for the earliest signs of hepatosplenomegaly.Conclusions: Dental practitioners should be alert for developmental abnormalities that may occur in patients with gingival fibromatosis as this may indicate the presence of a rare disorder like Zimmermann-Laband syndrome. A comprehensive medical history and physical systemic evaluation are essential for correct diagnosis and treatment of these cases.

Hemangioendothelioma of bone in a patient with a constitutional supernumerary marker

A 13-year old girl was diagnosed as having a bone hemangioendothelioma. Cytogenetic studies identified the presence of a small supernumerary marker chromosome in this patient. Classical cytogenetic methods using G-, C-, Ag-NOR-banding were supplemented by spectral karyotyping (SKY) and fluorescence in situ hybridization to reveal a karyotype 47,XX,+mar.ish der(22)(D22S543+) karyotype in cells derived from the tumor and lymphocytes. These findings suggest that the supernumerary marker chromosome originated from the proximal centromeric region of chromosome 22, and that trisomy of the region 22q11: was not associated with adverse phenotypic effects, but that the presence of trisomy 22q11 may be related to the development of this tumor. (C) Elsevier B.V., 1999. All rights reserved.

Cytogenetic characterization of a supernumerary chromosome segment and of B-chromosomes in Astyanax scabripinnis (Teleostei, Characidae)

The chromosome complement of a local population of Astyanax scabripinnis in Brazil was investigated with emphasis on the study of the heterochromatin attached to the A-chromosomes and present in the macro B-chromosome. Analysis after C-banding, silver and CMA(3) staining, incorporation of 5-bromo-2'-deoxyuridine and chromosome digestion with nine restriction endonucleases revealed that the heterochromatin in the B-chromosomes was different from that found in the A-chromosomes. A polymorphism due to the presence of a supernumerary heterochromatic chromosome segment was observed in the population investigated. Some aspects related to the origin of the heterochromatin polymorphism in Astyanax scabripinnis are discussed.

Unusual occurrence of a ZZ/ZW sex-chromosome system and supernumerary chromosomes in Characidium cf. fasciatum (Pisces, Characiformes, Characidiinae)

Individuals of two populations of the fish Characidium cf. fasciatum were cytogenetically studied and showed a basic diploid number of 50 chromosomes. Some fishes were found to have 51 to 54 chromosomes due to the presence of one to four small subtelocentric/acrocentric supernumerary chromosomes. When analyzed by conventional Giemsa staining, male and female specimens of C. cf. fasciatum from the Quinta stream and Pardo River presented the same basic karyotypic macro- and microstructure, consisting of 32 metacentric and 18 submetacentric chromosomes.Ag-NORs were terminally located on the long arms of two submetacentric chromosome pairs. Constitutive heterochromatin was identified by C-banding as small pericentromeric blocks in the majority of the chromosomes, and B-chromosomes were found to be heterochromatic. The occurrence of one totally heterochromatic submetacentric chromosome restricted to females and considered as an unusual feature in fish karyotypes led to the identification of a ZZ/ZW sex-chromosome system. The implications of chromosomic differentiation observed in the genus Characidium are discussed.

Origin and molecular organization of supernumerary chromosomes of Prochilodus lineatus (Characiformes, Prochilodontidae) obtained by DNA probes

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Supernumerary chromosome inheritance in the curimbata (Prochilodus lineatus) of the Mogi-Guacu River

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Karyotypic evolution trends in Rhamdia quelen (Siluriformes, Heptapteridae) with considerations about the origin and differentiation of its supernumerary chromosomes

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

CYTOGENETICS OF 4 BRAZILIAN HYLA SPECIES (AMPHIBIA-ANURA) AND DESCRIPTION OF A CASE WITH A SUPERNUMERARY CHROMOSOME

The chromosomes of Hyla fuscovaria, H. hayii and II. prasina, with 2n=24, and of Hyla sp. (aff. circumdata), a new species, with 2n=24 and 2n=25, were studied.The karyotypes with 2n=24 in the four species were very similar, with almost no differences in the size and morphology of the chromosomes. The numerical variability found in Hyla sp. (aff. circumdata) is due to the occurrence of a supernumerary chromosome in some specimens. NOR data obtained for the first time in the four species and C banding analysis of H. prasina indicate that such types of banding may be useful to differentiate species with very similar karyotypes, contributing to the understanding of chromosome evolution and the establishment of phylogenetic relationships among Brazilian Hyla species.

Synapsis in supernumerary chromosomes of Prochilodus lineatus (Teleostei: Prochilodontidae)

Meiotic analysis performed on a sample of 10 specimens of Prochilodus lineatus revealed continuous filaments of different sizes stained by AgNO3, corresponding to the bivalent of the normal complement. Small supernumerary chromosomes were observed as isolated and well stained bodies, scattered among the other elements. Synaptonemal complex studies have shown that the beginning of chromosome pairing process in P. lineatus usually occurs from the telomeres to the pericentromeric region. At the end of the pachytene 27 bivalents are perfectly paired and the small supernumerary chromosomes of this species are seen as bivalents, trivalents, or tetravalents. The central region of these small chromosomes show a trick staining when they formed bivalents or tetravalents. This portion seems to correspond to the pericentromeric region of the regular chromosomes with the heterochromatic characteristic of B chromosomes.

Unusually rapid growth of brown tumour in the mandible after parathyroidectomy associated with the presence of a supernumerary parathyroid gland

The aim of this study is to report the case of a quick growing brown tumour in the jaw after a parathyroidectomy due to the presence of a rare fifth parathyroid gland. The patient had chronic renal disease and the diagnosis was tertiary hyperparathyroidism. Thirty days after the parathyroidectomy, the patient returned with a significant increase in the tumour size. The suspicion of a supernumerary gland was confirmed by parathyroid scintigraphy. The treatment of brown tumour is dependent on the treatment of the hyperparathyroidism. However, curettage should be considered if a large lesion is disturbing mastication. In conclusion, this case should attract the attention of general practitioner dentists, since they may be the first professionals who have contact with the patient with a brown tumour in the jaws. Likewise, this case emphasises the importance of knowing the type of hyperparathyroidism involved to allow for effective treatment planning. © 2011 European Association for Cranio-Maxillo-Facial Surgery.