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.

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.

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

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 Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Guillaume Jedraszak ◽  
Aline Receveur ◽  
Joris Andrieux ◽  
Michèle Mathieu-Dramard ◽  
Henri Copin ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Marker Chromosome ◽  
Partial Trisomy ◽  
Comparative Genomic ◽  
Genetic Syndrome ◽  
Psychomotor Delay ◽  
Small Supernumerary Marker Chromosome ◽  
Cat Eye Syndrome ◽  
Neurological Phenotype

Cat-eye syndrome is a rare genetic syndrome of chromosomal origin. Individuals with cat-eye syndrome are characterized by the presence of preauricular pits and/or tags, anal atresia, and iris coloboma. Many reported cases also presented with variable congenital anomalies and intellectual disability. Most patients diagnosed with CES carry a small supernumerary bisatellited marker chromosome, resulting in partial tetrasomy of 22p-22q11.21. There are two types of small supernumerary marker chromosome, depending on the breakpoint site. In a very small proportion of cases, other cytogenetic anomalies are reportedly associated with the cat-eye syndrome phenotype. Here, we report a patient with cat-eye syndrome caused by a type 1 small supernumerary marker chromosome. The phenotype was atypical and included a severe developmental delay. The use of array comparative genomic hybridization ruled out the involvement of another chromosomal imbalance in the neurological phenotype. In the literature, only a few patients with cat-eye syndrome present with a severe developmental delay, and all of the latter carried an atypical partial trisomy 22 or an uncharacterized small supernumerary marker chromosome. Hence, this is the first report of a severe neurological phenotype in cat-eye syndrome with a typical type 1 small supernumerary marker chromosome. Our observation clearly complicates prognostic assessment, particularly when cat-eye syndrome is diagnosed prenatally.

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 Familial Small Supernumerary Marker Chromosome 15 Associated with Cryptic Mosaicism with Two Different Additional Marker Chromosomes Derived de novo from Chromosome 9: Detailed Case Study and Implications for Recurrent Pregnancy Loss

2018 ◽  
Vol 156 (4) ◽  
pp. 179-184
Author(s):  
Vida Čulić ◽  
Ruzica Lasan-Trcić ◽  
Thomas Liehr ◽  
Igor N. Lebedev ◽  
Maja Pivić ◽  
...  
Keyword(s):  
Pregnancy Loss ◽  
De Novo ◽  
Marker Chromosome ◽  
Chromosome 9 ◽  
Chromosome 15 ◽  
Normal Female ◽  
Fish Analysis ◽  
Spontaneous Abortions ◽  
Small Supernumerary Marker Chromosome ◽  
Trisomy 9

We report a case of familial small supernumerary marker chromosome 15 in a phenotypically normal female with 4 recurrent spontaneous abortions and a healthy child. The initial karyotype showed a small, bisatellited, apparently metacentric marker chromosome, 47,XX,+idic(15)(q11.1), maternally inherited. The proband's mother was mosaic for the idic(15)(q11.1) without pregnancy loss. Reexamination of the proband's karyotype revealed cryptic mosaicism for 1 ring and 1 minute chromosome derived de novo from chromosome 9 in 2% of the metaphases. In FISH analysis, the patient's karyotype was mos 47,XX,+idic(15)(q11.1)mat[100]/49,XX,+idic(15)(q11.1)mat,+r(9;9;9;9),+der(9)dn[2]. The second spontaneous abortion had trisomy 9 (47,XX,+9); the third had mosaic trisomy 9 in 21% of the nuclei and isodicentric chromosome 15 in 36% of the nuclei (mos 48,XN,+9,+idic(15)(q11.1)/47,XN,+9/47,XN,+idic(15)(q11.1)/46,XN). The first and fourth abortions were not cytogenetically studied. The cause of the spontaneous abortions in this patient is likely the cryptic mosaicism for ring and minute chromosomes 9, and gonadal mosaicism is most probable, due to the 2 abortions.

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