A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1–q12.1 in a healthy man

Rodríguez, Laura; Liehr, T; Martínez‐Fernández, M.L.; Lara, Ana; Torres, A. De Castro; Martı́nez-Frı́as, María Luisa

doi:10.1186/1755-8166-1-4

Cited by 7 publications

(4 citation statements)

References 22 publications

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“…Supernumerary marker chromosomes are a common type of chromosome abnormalities (0.043% in the general population) with extremely variable phenotypic consequences: from severe congenital malformations to the lack of abnormal phenotype [ 32 , 40 ]. Supernumerary marker chromosomes are frequently observed in unaffected individuals, the reason of which is usually explained by structural peculiarities or mosaicism [ 41 , 42 ]. The incidence of supernumerary marker chromosomes in unaffected individuals remains unknown.…”

Section: Genomic Variations In Unaffected Populationmentioning

confidence: 99%

Molecular Cytogenetics and Cytogenomics of Brain Diseases

Iourov

Vorsanova²,

Yurov³

2008

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Molecular cytogenetics is a promising field of biomedical research that has recently revolutionized our thinking on genome structure and behavior. This is in part due to discoveries of human genomic variations and their contribution to biodiversity and disease. Since these studies were primarily targeted at variation of the genome structure, it appears apposite to cover them by molecular cytogenomics. Human brain diseases, which encompass pathogenic conditions from severe neurodegenerative diseases and major psychiatric disorders to brain tumors, are a heavy burden for the patients and their relatives. It has been suggested that most of them, if not all, are of genetic nature and several recent studies have supported the hypothesis assuming them to be associated with genomic instabilities (i.e. single-gene mutations, gross and subtle chromosome imbalances, aneuploidy). The present review is focused on the intriguing relationship between genomic instability and human brain diseases. Looking through the data, we were able to conclude that both interindividual and intercellular genomic variations could be pathogenic representing, therefore, a possible mechanism for human brain malfunctioning. Nevertheless, there are still numerous gaps in our knowledge concerning the link between genomic variations and brain diseases, which, hopefully, will be filled by forthcoming studies. In this light, the present review considers perspectives of this dynamically developing field of neurogenetics and genomics.

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Section: Genomic Variations In Unaffected Populationmentioning

confidence: 99%

Molecular Cytogenetics and Cytogenomics of Brain Diseases

Iourov

Vorsanova²,

Yurov³

2008

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“…The report that has inspired this communication addresses basic side of chromosome mosaicism research. However, Molecular Cytogenetics has published a series of original researches, which have paid attention to practical side of chromosomal mosaicism [ 31 - 36 ]. These have demonstrated that chromosomal mosaicism is an appreciable phenomenon frequently encountered in small supernumerary marker chromosomes (sSMC) research [ 31 - 33 , 35 ].…”

mentioning

confidence: 99%

“…However, Molecular Cytogenetics has published a series of original researches, which have paid attention to practical side of chromosomal mosaicism [ 31 - 36 ]. These have demonstrated that chromosomal mosaicism is an appreciable phenomenon frequently encountered in small supernumerary marker chromosomes (sSMC) research [ 31 - 33 , 35 ]. Furthermore, it provided evidences that mosaic structural chromosome rearrangements are likely to occur more frequently, than previously recognized [ 4 , 5 , 34 , 36 ].…”

mentioning

confidence: 99%

Chromosomal mosaicism goes global

2008

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Intercellular differences of chromosomal content in the same individual are defined as chromosomal mosaicism (alias intercellular or somatic genomic variations or, in a number of publications, mosaic aneuploidy). It has long been suggested that this phenomenon poorly contributes both to intercellular (interindividual) diversity and to human disease. However, our views have recently become to change due to a series of communications demonstrated a higher incidence of chromosomal mosaicism in diseased individuals (major psychiatric disorders and autoimmune diseases) as well as depicted chromosomal mosaicism contribution to genetic diversity, the central nervous system development, and aging. The later has been produced by significant achievements in the field of molecular cytogenetics. Recently, Molecular Cytogenetics has published an article by Maj Hulten and colleagues that has provided evidences for chromosomal mosaicism to underlie formation of germline aneuploidy in human female gametes using trisomy 21 (Down syndrome) as a model. Since meiotic aneuploidy is suggested to be the leading genetic cause of human prenatal mortality and postnatal morbidity, these data together with previous findings define chromosomal mosaicism not as a casual finding during cytogenetic analyses but as a more significant biological phenomenon than previously recognized. Finally, the significance of chromosomal mosaicism can be drawn from the fact, that this phenomenon is involved in genetic diversity, normal and abnormal prenatal development, human diseases, aging, and meiotic aneuploidy, the intrinsic cause of which remains, as yet, unknown.

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“…In contrast, the largest and best characterized group where to find proximal duplications are patients with sSMC [3–7,14–16]. Besides their cytogenetic characterization, more and more cases were characterized at the molecular level by array-comparative genomic hybridization (aCGH) studies [4,17,18].…”

Section: Introductionmentioning

confidence: 99%

Clinical Impact of Proximal Autosomal Imbalances

Hamid

Weise

Voigt

et al. 2012

Balkan Journal of Medical Genetics

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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-number-sensitive genes are located in the human genome.

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A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1–q12.1 in a healthy man

Cited by 7 publications

References 22 publications

Molecular Cytogenetics and Cytogenomics of Brain Diseases

Molecular Cytogenetics and Cytogenomics of Brain Diseases

Chromosomal mosaicism goes global

Clinical Impact of Proximal Autosomal Imbalances

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