Unusual isochromosome 5p marker chromosome

2014 ◽  
Vol 167 (2) ◽  
pp. 455-459 ◽  
Author(s):  
Fanny Roulet-Coudrier ◽  
Amine Rouibi ◽  
Clotilde Thuillier ◽  
Sylvie Bourthoumieu ◽  
Aziza Lebbar ◽  
...  
Keyword(s):  
Marker Chromosome ◽  
Isochromosome 5P

Mosaic tetrasomy 5p resulting from an isochromosome 5p marker chromosome: Case report and review of literature

2012 ◽  
Vol 158A (2) ◽  
pp. 406-411 ◽  
Author(s):  
Jo-Ann K. Brock ◽  
Sarah Dyack ◽  
Mark Ludman ◽  
Nadine Dumas ◽  
Michele Gaudet ◽  
...  
Keyword(s):  
Case Report ◽  
Marker Chromosome ◽  
Review Of Literature ◽  
Isochromosome 5P

scholarly journals Molecular characterization of an analphoid supernumerary marker chromosome derived from 18q22.1→qter in prenatal diagnosis: a case report

2014 ◽  
Vol 7 (1) ◽  
Author(s):  
Vincenzo Altieri ◽  
Oronzo Capozzi ◽  
Maria Cristina Marzano ◽  
Oriana Catapano ◽  
Immacolata Di Biase ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Molecular Characterization ◽  
Marker Chromosome

Partial hexasomy for the Prader-Willi-Angelman syndrome critical region due to a maternally inherited large supernumerary marker chromosome

2010 ◽  
Vol 152A (8) ◽  
pp. 2034-2038 ◽  
Author(s):  
Nicole L. Hoppman-Chaney ◽  
D. Brian Dawson ◽  
Lai Nguyen ◽  
Sunanda Sengupta ◽  
Kara Reynolds ◽  
...  
Keyword(s):  
Angelman Syndrome ◽  
Critical Region ◽  
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.

Detection ofTSPY protein in a unilateral microscopic gonadoblastoma of a Turner mosaic patient with a Y-derived marker chromosome

1999 ◽  
Vol 189 (4) ◽  
pp. 623-626 ◽  
Author(s):  
R. Hildenbrand ◽  
W. Schr�der ◽  
E. Brude ◽  
A. Schepler ◽  
R. K�nig ◽  
...  
Keyword(s):  
Marker Chromosome

T(Y;14) — A new type of 14q+ marker chromosome

1981 ◽  
Vol 3 (1) ◽  
pp. 89-90 ◽  
Author(s):  
E. Gödde-Salz ◽  
E.-W. Schwarze ◽  
K. Lennert ◽  
W. Grote
Keyword(s):  
Marker Chromosome ◽  
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