Germline mosaicism - Wikipedia
Germline mosaicism, also called gonadal mosaicism, is a type of genetic mosaicism where more than one set of genetic information is found specifically within the gamete cells. Somatic mosaicism, a type of genetic mosaicism found in somatic cells, and germline mosaicism can be present at the same time or individually depending on when the conditions occur. When the mosaicism is only found in the gametes and not in any somatic cells, it is referred to as pure germline mosaicism. Germline mosaicism can be caused either by a mutation that occurs after conception, or by epigenetic regulation, alterations to DNA such as methylation that do not involve changes in the DNA coding sequence. A mutation in an allele acquired by a somatic cell early in its development can be passed on to its daughter cells, including those that later specialize to gametes. It can also be ...https://en.wikipedia.org/wiki/Germline_mosaicism
Chromosomal mosaicism | Article about Chromosomal mosaicism by The Free Dictionary
Looking for Chromosomal mosaicism? Find out information about Chromosomal mosaicism. The coexistence of two or more genetically distinct cell populations derived originally from a single zygote. Mosaics may arise at any stage of development,... Explanation of Chromosomal mosaicismhttps://encyclopedia2.thefreedictionary.com/Chromosomal+mosaicism
Germline mosaicism in osteopathia striata with cranial sclerosis : recurrence in siblings - Institutional Repository University...
We report recurrence of osteopathia striata with cranial sclerosis (OSCS) in two full siblings conceived by unaffected parents. Molecular confirmation of OSCS in both siblings was achieved by identification of a novel heterozygous mutation in the WTX gene. Neither parent had clinical features of OSCS nor was the pathogenic mutation demonstrable in DNA extracted from both peripheral blood leucocytes and buccal cells. This case demonstrates germline mosaicism in OSCS and represents the third report of mosaicism affecting the germline in families with OSCS. Previous reports were of parental gonadosomal mosaicism, with one showing recurrence in multiple children. Our observation adds to a body of evidence that suggests that germline mosaicism in OSCS may occur more frequently than believed previously and may have implications for counselling families with OSCS. ...https://repository.uantwerpen.be/link/irua/133435
The Stochastic Scientist: Genetic mosaicism may affect genome studies
By the way, this study dealt with 'somatic mosaicism'. The children with this condition had originated from a single fertilized egg and some of their cells had subsequently mutated. This is a common enough occurrence that some researchers believe we may all be somatic mosaics. Under rare circumstances, two fertilized eggs will fuse into one embryo (the reverse of identical twinning) and the resulting baby will have some cells that are derived from each of those eggs. ...http://stochasticscientist.blogspot.com.au/2013/05/genetic-mosaicism-may-affect-genome.html
Tiling resolution array-CGH shows that somatic mosaic deletion of the **EXT** gene is causative in **EXT** gene mutation...
Multiple osteochondromas (MO) is a hereditary skeletal disorder characterized by the presence of cartilage capped bony outgrowths at bone surface. Causative mutations in EXT1 or EXT2 genes have been described in 85-90 % of MO cases. However, in about 10-15 % of the MO cases, genomic alterations can not be detected, implying the potential role of other alterations. We have designed a custom-made Agilent oligonucleotide-based microarray, containing 44,000 probes, with tiling coverage of EXT1/2 genes and addition of 68 genes involved in heparan sulfate biosynthesis and other related pathways. Out of the 17 patient samples with previously undetected mutations, a low level of deletion of the EXT1 gene in about 10-15% of the blood cells was detected in two patients and mosaic deletion of the EXT2 was detected in one patient. Here we show that for the first time somatic mosaicism with large genomic deletions as the underlying mechanism in MO formation was identified. We propose that the existence ...https://repository.uantwerpen.be/link/irua/88959
Welcome to CDC stacks | Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome -...
To investigate large structural clonal mosaicism of chromosome X, we analysed the SNP microarray intensity data of 38,303 women from cancer genome-wide association studies (20,878 cases and 17,425 controls) and detected 124 mosaic X events >2 Mb in 97 (0.25%) women. Here we show rates for X-chromosome mosaicism are four times higher than mean autosomal rates; X mosaic events more often include the entire chromosome and participants with X events more likely harbour autosomal mosaic events. X mosaicism frequency increases with age (0.11% in 50-year olds; 0.45% in 75-year olds), as reported for Y and autosomes. Methylation array analyses of 33 women with X mosaicism indicate events preferentially involve the inactive X chromosome. Our results provide further evidence that the sex chromosomes undergo mosaic events more frequently than autosomes, which could have implications for understanding the underlying mechanisms of mosaic events and their ...https://stacks.cdc.gov/view/cdc/40463
45,X/47,XXX/47,XX, del(Y)(p?)/46,XX mosaicism causing true hermaphroditism. - PubMed - NCBI
Generate a file for use with external citation management software. Here we report a TH case in which hidden mosaicism for the Y and X chromosome was detected by PCR and FISH xxx p peripheral blood and gonadal tissue, supporting the fact that mosaicism may cause TH and that molecular analysis of gonadal tissue should be performed in all 46,XX cases. Permanent link to this document https: See also Escortkvinnor I: Crime Lowest crime relative to the rest of Seneca. Goebelii haeredum- Cumdumpster 0 Rezensionen. Genetic heterogeneity has been proposed as a cause of dual gonadal peta jensen interracial in some cases and recently, hidden mosaicism was reported to cause TH in some 46,XX SRY negative patients ...http://mah-yann.se/3d-porn/xxx-p.php
Gene mosaicism synonyms, gene mosaicism antonyms - FreeThesaurus.com
Synonyms for gene mosaicism in Free Thesaurus. Antonyms for gene mosaicism. 2 synonyms for mosaic: arial mosaic, photomosaic. What are synonyms for gene mosaicism?http://www.freethesaurus.com/gene+mosaicism
Chromosomal mosaicism on amniotic interphase nuclei detected by multiprobe FISH - Journal of Applied Genetics - Volume 44,...
So far classical prenatal detection of chromosome aberrations has been limited to the evaluation of metaphase by means of time-consuming cytogenetic techniques. The MultiVision PGT test enables a simultaneous detection of aneuploidies of chromosomes 13 ,18, 21, X, and Y, even 24 h after amniocentesis. In the presented case, this test detected prenatally a chromosomal mosaicism 69,XYY/46,XY. This result was not confirmed after birth, by the same test on blood smear. The discrepancy is difficult to explain ...http://psjd.icm.edu.pl/psjd/element/bwmeta1.element.element-from-psjc-7eb2e7c7-eefc-3e47-ab16-c45db575401d
Trisomy 2 mosaicism
... may be encountered during pregnancy as a finding following chorionic villus sampling. In these situations the trisomic cells are most often confined to the placenta and the pregnancy results in a healthy infant. Further investigation is warranted however, because in a small percentage of cases this finding is associated with an increased risk for intrauterine growth restriction and oligohydramnios. Questions regarding trisomy 2 mosaicism should be discussed with a genetic professional. Click here to visit GeneTests to search for a genetics professional near you ...http://diseaseinfosearch.org/Trisomy+2+mosaicism/7237
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. | Sigma-Aldrich
Sigma-Aldrich offers abstracts and full-text articles by [Katie Snape, Sandra Hanks, Elise Ruark, Patricio Barros-Núñez, Anna Elliott, Anne Murray, Andrew H Lane, Nora Shannon, Patrick Callier, David Chitayat, Jill Clayton-Smith, David R Fitzpatrick, David Gisselsson, Sebastien Jacquemont, Keiko Asakura-Hay, Mark A Micale, John Tolmie, Peter D Turnpenny, Michael Wright, Jenny Douglas, Nazneen Rahman].https://www.sigmaaldrich.com/catalog/papers/21552266
Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root...
Kato, M., Kanai, M., Soma, O., Takusa, Y., Kimura, T., Numakura, C., Matsuki, T., Nakamura, S. and Hayasaka, K. (2001), Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis. Ann Neurol., 50: 547-551. doi: 10.1002/ana.1231 ...http://onlinelibrary.wiley.com/doi/10.1002/ana.1231/references
Brain Somatic Mosaicism Network
According to the World Health Organization as many as 450 million people worldwide suffer from psychiatric disorders, making them a substantial proportion of the global health burden. The resulting strain on these individuals and society highlights the need for new therapies to alleviate suffering.. Family and twin studies have shown a strong heritability of psychiatric disorders, but findings from large-scale genome wide studies explain only a small proportion of that inheritance. A newly discovered feature of neuronal diversity, de novo somatic mutations, has emerged as a leading hypothesis to explain this "missing" or unexplained heritability. The National Institute of Mental Health (NIMH) has funded the Brain Somatic Mosaicism Network (BSMN) program with the goal of accelerating the discovery of a range of somatic genomic variations across human brain cell and tissue types and elucidating its role in the development of mental illnesses. This effort will generate large data sets for the ...http://brainsomaticmosaicism.org
"Somatic Mosaicism Due to a Reversion Variant Causing Hemi-atrophy: A N" by Jaya Punetha, Simin Mansoor et al.
Punetha, J., Mansoor, S., Bertorini, T., Kesari, A., Brown, K., & Hoffman, E. (2016). Somatic Mosaicism Due to a Reversion Variant Causing Hemi-atrophy: A Novel Variant of Dystrophinopathy.. European Journal of Human Genetics : EJHG, 24 (10). http://dx.doi.org/10.1038/ejhg.2016.22 ...http://hsrc.himmelfarb.gwu.edu/smhs_intsysbio_facpubs/219/
High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome | Journal of Medical Genetics
With the use of a targeted approach, combined with deep and ultra-deep sequencing, we detected low-level DICER1 mutant allele fractions in three patients exhibiting mosaicism for the detected mutations. The fourth case is also likely to be a mosaic for DICER1. These mosaic missense mutations were localised to 'hotspots' within the sequence encoding the DICER1 RNase IIIb domain and have been shown to selectively reduce 5p miRNA processing.34-36 We also discovered likely pathogenic second somatic mutations or LOH in tumours from all four patients, thus showing that the two-hit model applied to the tumours we studied (table 2 and online supplementary table S1).. The exact developmental stage at which the mosaic mutations were acquired has not been accurately determined, but given the presence of the mutant allele in tissue samples from all three germ layers, we suspect that the mutations occurred prior to gastrulation.1 ,37 The mosaic origin of patient 4's mutation remains to be unequivocally ...http://jmg.bmj.com/content/53/1/43
Array-MLPA analysis of chromosome X monosomy mosaicism. | Open-i
Array-MLPA analysis of chromosome X monosomy mosaicism. (A) A female patient (B10) with mosaicism. The average copy number on chromosome X was 0.71. (B) G-bandihttps://openi.nlm.nih.gov/detailedresult.php?img=PMC3111339_1471-2350-12-68-4&req=4
Mosaicism down syndrome characteristics
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Mosaicism in the organization of Con A binding sites on the me...
Mosaicism in the organization of Con A binding sites on the membrane surface of female cells of Nicotiana tabacum.: The presence of mosaicism in the organizatiohttps://www.mysciencework.com/publication/show/mosaicism-organization-con-binding-sites-membrane-surface-female-cells-nicotiana-tabacum-b77b751d
Qoo10 - [For Toyo goods, not cash] Girls Fashion (Yasukawa) mosaic pattern A-l... : Women's Clothing
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"Gene control of hematopoiesis. I. Erythrocyte mosaicism and permanent" by B Mintz and J Palm
Mintz, B and Palm, J, "Gene control of hematopoiesis. I. Erythrocyte mosaicism and permanent immunological tolerance in allophenic mice." (1969). Subject Strain Bibliography 1969. 1164 ...http://mouseion.jax.org/ssbb1969/1164/
UAB - School of Medicine - Genetics - Neurofibromatosis Type 2 Sequencing and Deletion/Duplication Analysis in Tumor (NF24)
TESTING METHODOLOGY. We offer a comprehensive test using gDNA-based direct sequencing of all NF2 exons (and flanking acceptor.donor intronic sequences) and MLPA analysis to detect copy number changes. Copy number changes are confirmed by quantitative PCR or aCGH.. Using this approach, mutation detection rate in leukocytes is ,90% in non-founder NF2 patients. Mutations detected include truncating mutations (nonsense, frameshift, splicing mutations), missense mutations, multi-exon deletions or duplications and total gene deletions.. In about 25-30% of founders (simplex cases, patients with unaffected parents), mutations are not detected in blood lymphocytes as a result of somatic mosaicism. Only mutations with mosaicism levels greater than 10% can be detected in lymphocyte DNA (Evans et al, 2007). Identification of the majority of mosaic mutation requires testing of tumor tissue (Evans et al, 2007). As RNA is most often degraded in available tumor material, a DNA-based ...http://www.uab.edu/medicine/genetics/medical-genomics-laboratory/testing-service/22-laboratories/medical-genomics/138-neurofibromatosis-type-2-test-4
Mouse model of chromosome mosaicism reveals lineage-specific depletion of aneuploid cells and normal developmental potential. |...
Sigma-Aldrich offers abstracts and full-text articles by [Helen Bolton, Sarah J L Graham, Niels Van der Aa, Parveen Kumar, Koen Theunis, Elia Fernandez Gallardo, Thierry Voet, Magdalena Zernicka-Goetz].https://www.sigmaaldrich.com/catalog/papers/27021558
Mosaicism - Causes, Symptoms, Diagnosis and Treatment | MyDocHub
MyDocHub explains about mosaicism including how they tend to develop, causes, symptoms, diagnosis and treatments on its trusted online health guides.https://www.mydochub.com/conditions/mosaicism
Distinct mechanisms underlie pattern formation in the skin and skin appendages - The Mathematical Institute, University of...
Patterns form with the break of homogeneity and lead to the emergence of new structure or arrangement. There are different physiological and pathological mechanisms that lead to the formation of patterns. Here, we first introduce the basics of pattern formation and their possible biological basis. We then discuss different categories of skin patterns and their potential underlying molecular mechanisms. Some patterns, such as the lines of Blaschko and Naevus, are based on cell lineage and genetic mosaicism. Other patterns, such as regionally specific skin appendages, can be set by distinct combinatorial molecular codes, which in turn may be set by morphogenetic gradients. There are also some patterns, such as the arrangement of hair follicles (hair whorls) and fingerprints, which involve genetics as well as stochastic epigenetic events based on physiochemical principles. Many appendage primordia are laid out in developmental waves. In the adult, some patterns, such as those involving cycling ...http://eprints.maths.ox.ac.uk/312/
The present findings demonstrate the importance of mPFC hypofunction in RTT by showing that activation of mPFC pyramidal neurons can reverse abnormalities in breathing and long-term retrieval of conditioned fear learning in Mecp2 Het mice, a model of RTT that recapitulates the genetic mosaicism and many phenotypic characteristics of the human disorder. It seems likely that distinct mechanisms downstream of enhanced pyramidal neuron activity underlie the reversal of these respiratory and cognitive abnormalities, respectively. This is underscored by the fact that the normalization of respiratory apneas and respiratory variability was transient and undetectable 24 h after CNO treatment, the same time point at which fear memory retrieval was rescued in mPFC-DREADD mutants. These differences could be explained by the fact that different populations of mPFC neurons innervate brainstem versus cortical and subcortical forebrain targets (Gabbott et al., 2005). In general, loss of Mecp2 is thought to ...http://www.eneuro.org/content/4/6/ENEURO.0277-17.2017