scholarly journals Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea

2012 ◽  
Vol 2012 ◽  
pp. 1-5
Author(s):  
Usha R. Dutta ◽  
Vijaya Kumar Pidugu ◽  
Ashwin Dalal
Keyword(s):  
Short Stature ◽  
Cytogenetic Analysis ◽  
Clinical Phenotype ◽  
Chromosome Rearrangement ◽  
Dicentric Chromosome ◽  
Derivative Chromosome ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization

We report a 16-year-old girl who presented with short stature and amenorrhea. Initially the cytogenetic analysis showed the presence of a mosaic non-Robertsonian dicentric chromosome involving chromosomes 14 and 19. Subsequent molecular cytogenetic analysis by fluorescencein situhybridization (FISH) using whole chromosome paints, centromeric probes, as well as gene specific probes confirmed the dicentric nature of the derivative chromosome and indicated that the rearrangement involved the short arms of both of these chromosomes. Furthermore, we also determined that the chromosome 19p13.3 breakpoint occurred within the terminal 1 Mb region. This is the first report of a mosaic non-Robertsonian dicentric chromosome involving chromosomes 14 and 19 with the karyotype determined as 45,XX,dic(14;19)(p11.2;p13.3)[35]/46,XX[15], and we suggest that the chromosome rearrangement could be the cause of clinical phenotype.

Molecular Cytogenetic Characterization of the DiGeorge Syndrome Region Using Fluorescence in Situ Hybridization

Genomics ◽  
1993 ◽  
Vol 17 (2) ◽  
pp. 403-407 ◽  
Author(s):  
Elizabeth A. Lindsay ◽  
Stephanie Halford ◽  
Roy Wadey ◽  
Peter J. Scambler ◽  
Antonio Baldini
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Digeorge Syndrome ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization

scholarly journals Comparative FISH-mapping of TTAGG telomeric sequences to the chromosomes of leafcutter ants (Formicidae, Myrmicinae): is the insect canonical sequence conserved?

2020 ◽  
Vol 14 (3) ◽  
pp. 369-385
Author(s):  
Carini Picardi Moraes de Castro ◽  
Danon Clemes Cardoso ◽  
Ricardo Micolino ◽  
Maykon Passos Cristiano
Keyword(s):  
High Homology ◽  
Atta Sexdens ◽  
Telomeric Sequences ◽  
Molecular Cytogenetic ◽  
Leafcutter Ants ◽  
Karyotypic Formula ◽  
Cytogenetic Characterization ◽  
Common Sequence

Telomeric sequences are conserved across species. The most common sequence reported among insects is (TTAGG)n, but its universal occurrence is not a consensus because other canonical motifs have been reported. In the present study, we used fluorescence in situ hybridization (FISH) using telomeric probes with (TTAGG)6 repeats to describe the telomere composition of leafcutter ants. We performed the molecular cytogenetic characterization of six Acromyrmex Mayr, 1865 and one Atta Fabricius, 1804 species (Acromyrmex ambiguus (Emery, 1888), Ac. crassispinus (Forel, 1909), Ac. lundii (Guérin-Mèneville, 1838), Ac. nigrosetosus (Forel, 1908), Ac. rugosus (Smith, 1858), Ac. subterraneus subterraneus (Forel, 1893), and Atta sexdens (Linnaeus, 1758)) and described it using a karyomorphometric approach on their chromosomes. The diploid chromosome number 2n = 38 was found in all Acromyrmex species, and the karyotypic formulas were as follows: Ac. ambiguus 2K = 14M + 12SM + 8ST + 4A, Ac. crassispinus 2K = 12M + 20SM + 4ST + 2A, Ac. lundii 2K = 10M + 14SM + 10ST + 4A, Ac. nigrosetosus 2K = 12M + 14SM + 10ST + 2A, and Ac. subterraneus subterraneus 2K = 14M + 18SM + 4ST + 2A. The exact karyotypic formula was not established for Ac. rugosus. FISH analyses revealed the telomeric regions in all the chromosomes of the species studied in the present work were marked by the (TTAGG)6 sequence. These results reinforce the premise that Formicidae presents high homology between their genera for the presence of the canonical sequence (TTAGG)n.

scholarly journals The molecular cytogenetic characterization of Conopophaga lineata indicates a common chromosome rearrangement in the Parvorder Furnariida (Aves, Passeriformes)

2020 ◽  
Vol 43 (3) ◽  
Author(s):  
Thays Duarte de Oliveira ◽  
Rafael Kretschmer ◽  
Natasha Ávila Bertocchi ◽  
Patricia C.M. O’Brien ◽  
Malcolm A. Ferguson-Smith ◽  
...  
Keyword(s):  
Chromosome Rearrangement ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization
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