scholarly journals Trisomy 21 with a Small Supernumerary Marker Chromosome Derived from Chromosomes 13/21 and 18

2010 ◽  
Vol 13 (1) ◽  
pp. 55-58 ◽  
Author(s):  
S Niksic ◽  
V Deretic ◽  
G Pilic ◽  
E Ewers ◽  
M Merkas ◽  
...  
Keyword(s):  
Clinical Outcome ◽  
Trisomy 21 ◽  
Healthy Subjects ◽  
Case Reports ◽  
Marker Chromosome ◽  
Partial Trisomy ◽  
Small Supernumerary Marker Chromosome ◽  
Trisomy 18P

Trisomy 21 with a Small Supernumerary Marker Chromosome Derived from Chromosomes 13/21 and 18We describe a trisomy 21 with a small supernumerary marker chromosome (sSMC) derived from chromosomes 13/21 and 18 in which the karyotype was 48, XY, +der(13 or 21)t(13 or 21;18)(13 or 21pter→13q11 or 21q11.1::18p 11.21→18pter),+21. Of the 35 case reports in the literature for a karyotype 48, XN, +21,+mar, in only 12 was the origin of the sSMC determined by fluorescence in situ hybridization (FISH), and only one was a der(13 or 21) and none were derived from two chromosomes. The influence of the partial trisomy 18p on the clinical outcome was hard to determine, however, there are reports on clinically healthy subjects for partial trisomy 18p.

scholarly journals Another Small Supernumerary Marker Chromosome (sSMC) Derived from Chromosome 2: Towards a Genotype/Phenotype Correlation

2005 ◽  
Vol 53 (3) ◽  
pp. 367-370 ◽  
Author(s):  
Kristin Mrasek ◽  
Heike Starke ◽  
Thomas Liehr
Keyword(s):  
Marker Chromosome ◽  
Partial Trisomy ◽  
Chromosome 2 ◽  
Specific Probe ◽  
Phenotype Correlation ◽  
Small Supernumerary Marker Chromosome ◽  
Genotype Phenotype Correlation ◽  
Multicolor Fluorescence ◽  
Probe Set

Here we report a prenatally detected small supernumerary marker chromosome (sSMC) derived from chromosome 2 as demonstrated by cenM-FISH (centromere-specific multicolor fluorescence in situ hybridization). By application of a recently described subcentromere-specific probe set (subcenM-FISH) for chromosome 2, the presence of a small partial trisomy due to a karyotype 47,XX, + r(2)(::p11.1->q11.2::) was demonstrated. Including this case, a total of 11 patients with sSMC(2) are described throughout the literature. Based on that data, a first genotype/phenotype correlation according to the size and structure of the marker is suggested.

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.

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

Mosaic partial trisomy 19p12-q13.11 due to a small supernumerary marker chromosome: A locus associated with Asperger syndrome?

2011 ◽  
Vol 155 (9) ◽  
pp. 2308-2310 ◽  
Author(s):  
Fabio Rueda Faucz ◽  
Josiane Souza ◽  
Aguinaldo Bonalumi Filho ◽  
Vanessa Santos Sotomaior ◽  
Egon Frantz ◽  
...  
Keyword(s):  
Asperger Syndrome ◽  
Marker Chromosome ◽  
Partial Trisomy ◽  
Small Supernumerary Marker Chromosome

scholarly journals Clinical Impact of Proximal Autosomal Imbalances

2012 ◽  
Vol 15 (2) ◽  
pp. 15-21 ◽  
Author(s):  
A.B. Hamid ◽  
A. Weise ◽  
M. Voigt ◽  
M. Bucksch ◽  
N. Kosyakova ◽  
...  
Keyword(s):  
Copy Number ◽  
Single Cell Analysis ◽  
Chromosomal Rearrangements ◽  
Marker Chromosome ◽  
Partial Trisomy ◽  
Clinical Impact ◽  
Cell Analysis ◽  
Small Supernumerary Marker Chromosome ◽  
Copy Numbers ◽  
Based Medicine

ABSTRACT Centromere-near gain of copy number can be induced by intra- or inter-chromosomal rearrangements or by the presence of a small supernumerary marker chromosome (sSMC). Interestingly, partial trisomy to hexasomy of euchromatic material may be present in clinically healthy or affected individuals, depending on origin and size of chromosomal material involved. Here we report the known minimal sizes of all centromere-near, i.e., proximal auto-somal regions in humans, which are tolerated; over 100 Mb of coding DNA are comprised in these regions. Additionally, we have summarized the typical symptoms for nine proximal autosomal regions including genes obviously sensitive to copy numbers. Overall, studying the carriers of specific chromosomal imbalances using genomics-based medicine, combined with single cell analysis can provide the genotype-phenotype correlations and can also give hints where copy-numbersensitive genes are located in the human genome.

Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis

2007 ◽  
Vol 143A (10) ◽  
pp. 1108-1113 ◽  
Author(s):  
Olaya Villa ◽  
Miguel del Campo ◽  
Marta Salido ◽  
Blanca Gener ◽  
Laura Astier ◽  
...  
Keyword(s):  
Marker Chromosome ◽  
Partial Trisomy ◽  
Small Supernumerary Marker Chromosome

A Case of Partial Trisomy 2p23-pter Syndrome with Trisomy 18p Due to a de novo Supernumerary Marker Chromosome

2010 ◽  
Vol 30 (3) ◽  
pp. 312-317 ◽  
Author(s):  
Jong Ho Lee ◽  
Hee Soon Cho ◽  
Eun Sil Lee ◽  
Bo-Chan Jung
Keyword(s):  
De Novo ◽  
Marker Chromosome ◽  
Partial Trisomy ◽  
Trisomy 18P
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