Molecular identification of a small supernumerary marker chromosome by in situ hybridization: diagnosis of an isochromosome 18p with probe L1.84

2008 ◽  
Vol 39 (6) ◽  
pp. 429-433 ◽  
Author(s):  
Elisabeth Blennow ◽  
Karen Bröndum Nielsen
Keyword(s):  
In Situ Hybridization ◽  
Molecular Identification ◽  
Marker Chromosome ◽  
Small Supernumerary Marker Chromosome ◽  
Isochromosome 18P

A small supernumerary marker chromosome X identified by in situ hybridization

2008 ◽  
Vol 47 (5) ◽  
pp. 270-273 ◽  
Author(s):  
Asli N. Silahtaroglu ◽  
Seniha Hacihanefioglu ◽  
Sükriye Yilmaz ◽  
Yelda Tarkan ◽  
Asim Cenani ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Marker Chromosome ◽  
Chromosome X ◽  
Small Supernumerary Marker Chromosome

scholarly journals Two Separate Cases: Complex Chromosomal Abnormality Involving Three Chromosomes and Small Supernumerary Marker Chromosome in Patients with Impaired Reproductive Function

Genes ◽  
2020 ◽  
Vol 11 (12) ◽  
pp. 1511
Author(s):  
Tatyana V. Karamysheva ◽  
Tatyana A. Gayner ◽  
Vladimir V. Muzyka ◽  
Konstantin E. Orishchenko ◽  
Nikolay B. Rubtsov
Keyword(s):  
Genetic Counseling ◽  
Chromosome Rearrangement ◽  
Marker Chromosome ◽  
Reproductive Function ◽  
Small Supernumerary Marker Chromosome ◽  
Comprehensive Chromosome Screening ◽  
The Family ◽  
Multicolor Banding ◽  
The One

For medical genetic counseling, estimating the chance of a child being born with chromosome abnormality is crucially important. Cytogenetic diagnostics of parents with a balanced karyotype are a special case. Such chromosome rearrangements cannot be detected with comprehensive chromosome screening. In the current paper, we consider chromosome diagnostics in two cases of chromosome rearrangement in patients with balanced karyotype and provide the results of a detailed analysis of complex chromosomal rearrangement (CCR) involving three chromosomes and a small supernumerary marker chromosome (sSMC) in a patient with impaired reproductive function. The application of fluorescent in situ hybridization, microdissection, and multicolor banding allows for describing analyzed karyotypes in detail. In the case of a CCR, such as the one described here, the probability of gamete formation with a karyotype, showing a balance of chromosome regions, is extremely low. Recommendation for the family in genetic counseling should take into account the obtained result. In the case of an sSMC, it is critically important to identify the original chromosome from which the sSMC has been derived, even if the euchromatin material is absent. Finally, we present our view on the optimal strategy of identifying and describing sSMCs, namely the production of a microdissectional DNA probe from the sSMC combined with a consequent reverse painting.

Use of Fluorescent In Situ Hybridization for Marker Chromosome Identification in Congenital and Neoplastic Disorders

1991 ◽  
Vol 96 (2) ◽  
pp. 203-210 ◽  
Author(s):  
Chris R. Schad ◽  
William J. Kraker ◽  
Syed M. Jalal ◽  
Martin S. Tallman ◽  
Harold N. Londer ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescent In Situ Hybridization ◽  
Marker Chromosome ◽  
Chromosome Identification ◽  
Neoplastic Disorders

Class II Analphoid Chromosome in a Child with Aberrant Chromosome 7: A Rare Cytogenetic Association

2015 ◽  
Vol 146 (2) ◽  
pp. 120-123 ◽  
Author(s):  
Madhavan Jeevan Kumar ◽  
Rangasamy Ashok Kumar ◽  
Venugopal Subhashree ◽  
Thanikachalam Jayasudha ◽  
Venkatasubramanian Hemagowri ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Marker Chromosome ◽  
Ring Chromosome ◽  
Class Ii ◽  
Normal Chromosome ◽  
Chromosome 7 ◽  
Acentric Fragment ◽  
Aberrant Chromosome ◽  
Dysmorphic Features

A neocentromere is a functional centromere that has arisen within a region not known to have a centromere. We present a case with a very rarely reported class II neocentromere formation in an aberrant chromosome 7. A 22-month-old male was referred because of dysmorphic features. Banding cytogenetics was performed, and a ring 7 and a supernumerary marker chromosome along with a normal chromosome 7 were found. In situ hybridization using a centromeric probe revealed 46 signals, of which 2 signals for chromosome 7 were observed, one on the normal and one on the ring chromosome. Further analysis using FISH revealed that the linear acentric fragment was part of the 7q region, which suggests that there could be a possible McClintock mechanism.

Identification of a tumor marker chromosome by flow sorting, DNA amplification in vitro, and in situ hybridization of the amplified product

1993 ◽  
Vol 6 (1) ◽  
pp. 10-16 ◽  
Author(s):  
Gert A. Boschman ◽  
Charles H. C. M. Buys ◽  
Anneke Y. Van Der Veen ◽  
Wim Rens ◽  
Jan Osinga ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Tumor Marker ◽  
Marker Chromosome ◽  
Dna Amplification ◽  
Flow Sorting

scholarly journals Chromosomal localization of transfected genes by a combination of hot banding and fluorescence in situ hybridization.

1992 ◽  
Vol 40 (7) ◽  
pp. 1053-1058 ◽  
Author(s):  
J E De Vries ◽  
F H Kornips ◽  
J Wiegant ◽  
P M Moerkerk ◽  
N Senden ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Dna Sequences ◽  
Integration Site ◽  
Marker Chromosome ◽  
Test System ◽  
Confocal Scanning Laser Microscopy ◽  
Integration Sites ◽  
Confocal Scanning Laser

We describe the combination of hot banding with fluorescence in situ hybridization as a rapid and efficient method to identify integration sites of transfected DNA sequences in chromosomes. As a test system we used SW480 EJ2, a clonal cell line obtained after transfection of SW480 with pSV2neoEJ, a plasmid containing a point-mutated, c-Ha-RAS oncogene. Nick-translated probes were compared with random primed-labeled probes to evaluate their relative efficiency in fluorescence in situ hybridization. The fluorescence signals were quantified in interphase nuclei by confocal scanning laser microscopy. Nick-translated probes were found to yield better results. Hot banding followed by fluorescence in situ hybridization localized the integration site of pSV2neoEJ in SW480 EJ2 at the site of a translocation on a marker chromosome Xp+. The combination of fluorescence in situ hybridization and hot banding can be used to (a) rapidly and efficiently analyze integration sites in large numbers of transfectants, (b) assess the clonality of transfected cell lines, and (c) localize the site of integration of transfected genes in the recipient genome.

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