Fluorescence in situ hybridization

Postnatal diagnosis of constitutive ring chromosome 13 using both conventional and molecular cytogenetic approaches

L. B. Minasi, Pinto, I. P., de Almeida, J. G., de Melo, A. V., Cunha, D. M. C., Ribeiro, C. L., Silva, G. P., Brasil, M. G., Silva, D. M., da Silva, C. C., and da Cruz, A. D., “Postnatal diagnosis of constitutive ring chromosome 13 using both conventional and molecular cytogenetic approaches”, vol. 14, pp. 1692-1699, 2015.

We describe the first postnatal diagnosis of a child from Central Brazil with de novo cytogenetic alterations in 13q showing malformations of the brain, eyes, distal limbs, and genitourinary tract, and severe intellectual disability. The karyotype was a constitutive 46,XX,r(13)[77]/45,XX,-13[17]/46,XX,idic r(13)[6].

Sperm aneuploidy and implications for genetic counseling in a pedigree of three t(1;3) balanced translocation carriers

L. - L. Li, Dong, Y., Wang, R. - X., An, N., Yun, X., and Liu, R. - Z., “Sperm aneuploidy and implications for genetic counseling in a pedigree of three t(1;3) balanced translocation carriers”, vol. 14, pp. 5003-5009, 2015.

A reciprocal translocation between the short arm of chromosome 1 and the long arm of chromosome 3 was observed in a pedigree of three carriers (proband, and his brother and mother). In this study, the three carriers had different clinical manifestations: the proband with infertility, his brother with spousal miscarriages, and his mother with no adverse reproductive history.

Chromosomal localization and partial sequencing of the 18S and 28S ribosomal genes from Bradysia hygida (Diptera: Sciaridae)

V. P. Gaspar, Shimauti, E. L. T., and Fernandez, M. A., “Chromosomal localization and partial sequencing of the 18S and 28S ribosomal genes from Bradysia hygida (Diptera: Sciaridae)”, vol. 13, pp. 2177-2185, 2014.

In insects, ribosomal genes are usually detected in sex chromosomes, but have also or only been detected in autosomal chromosomes in some cases. Previous results from our research group indicated that in Bradysia hygida, nucleolus organizer regions were associated with heterochromatic regions of the autosomal C chromosome, using the silver impregnation technique. The present study confirmed this location of the ribosomal genes using fluorescence in situ hybridization analysis.

Comparative cytogenetic mapping of rRNA genes among naked catfishes: implications for genomic evolution in the Bagridae family

W. Supiwong, Liehr, T., Cioffi, M. B., Chaveerach, A., Kosyakova, N., Fan, X., Tanee, T., and Tanomtong, A., “Comparative cytogenetic mapping of rRNA genes among naked catfishes: implications for genomic evolution in the Bagridae family”, vol. 13, pp. 9533-9542, 2014.

In the present study, the karyotype and chromosomal characteristics of 9 species of the Bagridae fish family were investigated using conventional Giemsa staining as well as dual-color fluorescence in situ hybridization to detect the 18S and 5S rDNA sites. In addition to describing the karyotype of several Bagridae catfishes, we established molecular cytogenetic techniques to study this group.

Microsatellite in Aeschynomene falcata (Leguminosae): diversity, cross-amplification, and chromosome localization

C. A. Polido, Mantello, C. C., Moraes, A. P., Souza, A. P., and Forni-Martins, E. R., “Microsatellite in Aeschynomene falcata (Leguminosae): diversity, cross-amplification, and chromosome localization”, vol. 13, pp. 10390-10397, 2014.

Aeschynomene falcata is an important forage species; however, because of low seed production, it is underutilized as forage species. Aeschynomene is a polyphyletic genus with a challenging taxonomic position. Two subgenera have been proposed, and it is suggested that Aeschynomene can be split in 2 genera. Thus, new markers, such as microsatellite sequences, are desirable for improving breeding programs for A. falcata.

Chromosome mapping of 18S rDNA and 5S rDNA by dual-color fluorescence in situ hybridization in the half-smooth tongue sole (Cynoglossus semilaevis)

L. Jiang, Jiang, J., Liu, J., Yuan, J., Chen, Y., Zhang, Q., and Wang, X., “Chromosome mapping of 18S rDNA and 5S rDNA by dual-color fluorescence in situ hybridization in the half-smooth tongue sole (Cynoglossus semilaevis)”, vol. 13, pp. 10761-10768, 2014.

Half-smooth tongue sole (Cynoglossus semilaevis) is an important aquaculture flatfish in China. Cytogenetic analysis has revealed that its sex determination system is female heterogametic (ZZ/ZW). The W chromosome is morphologically larger and has been considered evolutionarily younger than any other chromosome in the set. However, the genetic origin and evolution process of this neo-chromosome remains unclear. In this study, 2 tandem arrays of rRNA genes were chosen to address this question.

Molecular cytogenetic characterization of the Aegilops biuncialis karyotype

J. Wang, Zhang, W., Zhao, H., Li, F. R., Wang, Z. G., Ji, J., Zhang, X. Q., Wang, D. W., and Li, J. M., “Molecular cytogenetic characterization of the Aegilops biuncialis karyotype”, vol. 12. pp. 683-692, 2013.

Aegilops biuncialis can be hybridized with wheat (Triticum spp) and has been used for wheat breeding and genetic studies. The A. biuncialis karyotype (Ub Ub Mb Mb) was investigated based on three A. biuncialis accessions grown in China. Two pairs of SAT chromosomes were identified as 1Ub and 5Ub, with a karyotype formula of 2n = 4x = 28 = 14m + 10sm + 4st. Fluorescence in situ hybridization (FISH) and C-banding approaches were used to analyze the A.

Assessment of clinical scoring systems for the diagnosis of Williams-Beuren syndrome

D. E. S. Leme, Souza, D. H., Mercado, G., Pastene, E., Dias, A., and Moretti-Ferreira, D., “Assessment of clinical scoring systems for the diagnosis of Williams-Beuren syndrome”, vol. 12. pp. 3407-3411, 2013.

Williams-Beuren syndrome (WBS) is a genetic disorder characterized by physical and intellectual developmental delay, associated with congenital heart disease and facial dysmorphism. WBS is caused by a microdeletion on chromosome 7 (7q11.23), which encompasses the elastin (ELN) gene and about 27 other genes. The gold standard for WBS laboratory diagnosis is FISH (fluorescence in situ hybridization), which is very costly. As a possible alternative, we investigated the accuracy of three clinical diagnostic scoring systems in 250 patients with WBS diagnosed by FISH.

Successful preimplantation genetic aneuploidy screening in Turkish patients

N. Ercelen, Turtar, E., Gultomruk, M., Comert, H., Coskun, H., Mercan, R., and Nuhoglu, A., “Successful preimplantation genetic aneuploidy screening in Turkish patients”, vol. 10, pp. 4093-4103, 2011.

Preimplantation genetic diagnosis is a preventive approach for identifying genetic abnormalities in early stages of reproduction. We used preimplantation genetic aneuploidy screening in 230 cycles of patients with indications of advanced maternal age, recurrent implantation failure, recurrent spontaneous abortions, or severe male factor. Biopsied blastomeres from embryos with six to eight blastomeres on day 3 were fixed and fluorescence in situ hybridization was utilized on chromosomes 13, 16, 18, 21, 22, X, and Y.

Subtelomeric region of chromosome 2 in patients with autism spectrum disorders

A. Barbosa-Gonçalves, Vendrame-Goloni, C. B., Martins, A. L. B., and Fett-Conte, A. C., “Subtelomeric region of chromosome 2 in patients with autism spectrum disorders”, vol. 7, pp. 527-533, 2008.

Autism spectrum disorders are severe psychiatric diseases commonly identified in the population. They are diagnosed during childhood and the etiology has been much debated due to their variations and complexity. Onset is early and characterized as communication and social interaction disorders and as repetitive and stereotyped behavior. Austistic disorders may occur together with various genetic and chromosomal diseases. Several chromosomal regions and genes are implicated in the predisposition for these diseases, in particular those with products expressed in the central nervous system.

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