AnatomyDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesDisciplines and OccupationsNamed GroupsHealth Care
MosaicismSyndromeTurner SyndromeSex Chromosome AberrationsDown SyndromeTrisomyGonadal Dysgenesis, MixedKaryotypingMetabolic Syndrome XAbnormalities, MultipleChromosome DisordersPigmentation DisordersPedigreeKlinefelter SyndromeUniparental DisomyCryopyrin-Associated Periodic SyndromesNephrotic SyndromeSjogren's SyndromeChromosome AberrationsAneuploidyChromosomes, Human, XIn Situ Hybridization, FluorescenceIntellectual DisabilityPhenotypePrenatal DiagnosisX ChromosomeMutationPrader-Willi SyndromeGenetic CounselingEpidermolysis BullosaWiskott-Aldrich SyndromeRing ChromosomesNeurofibromatosis 2Chorionic Villi SamplingMyelodysplastic SyndromesChromosome BandingGerm-Line MutationCushing SyndromeY ChromosomeDNA Mutational AnalysisPreimplantation DiagnosisAcute Coronary SyndromePolycystic Ovary SyndromeGonadal DysgenesisWilliams SyndromeChromosomes, Human, 21-22 and YPregnancyFaciesAngelman SyndromeDiGeorge SyndromeInfant, NewbornAllelesHorner SyndromeLong QT SyndromeChromosomes, Human, 13-15HeterozygoteChromosome DeletionGuillain-Barre SyndromeChromosomes, Human, YHemolytic-Uremic SyndromeChromosomes, Human, Pair 21Compartment SyndromesTourette SyndromeCraniofacial AbnormalitiesWiskott-Aldrich Syndrome ProteinAntiphospholipid Syndrome
Somatic mosaicismGeneticMutationsMutationTrisomy 21TranslocationPhenotypeGermlineDown'sOccurDiagnosisPhenotypesChromosomalClinicalDiseasesManifestationsKlinefelterChromosomesHereditaryFragile X syndroAngelmanPaternalMosaic Down syndromeChromosome 21Child with Down syndromeBuccalGeneSporadicAutosomal22q11.2Cornelia de LangeApproximatelyVariantsNeurodevelopmental disorderDeletionPrenatalSymptoms of Down syndromeFeatures of Down syndromeCongenital heart dDevelopmentalHormonalTurnerSeizuresIntrauterineTrimesterDisordersRett
Somatic mosaicism11
  • Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes. (ox.ac.uk)
  • Levels of maternal somatic mosaicism for this mutation, estimated by pyrosequencing, ranged from 3.3% in hair roots to 14.1% in blood. (ox.ac.uk)
  • conversely, somatic mosaicism is a type of genetic mosaicism found in somatic cells. (wikipedia.org)
  • Germline mosaicism can be present at the same time as somatic mosaicism or individually, depending on when the conditions occur. (wikipedia.org)
  • In the paper Germline and somatic mosaicism in transgenic mice published in 1986, Thomas M.Wilkie, Ralph L.Brinster, and Richard D.Palmiter analyzed a germline mosaicism experiment done on 262 transgenic mice and concluded that 30% of founder transgenic mice are mosaic in the germline. (wikipedia.org)
  • Somatic mosaicism in the Wiskott-Aldrich syndrome: Molecular and functional characterization of genotypic revertants. (medscape.com)
  • The pathogenesis of CINCA syndrome patients who carry NLRP3 mutations as somatic mosaicism has not been precisely described because of the difficulty in separating individual cells based on the presence or absence of the mutation. (nih.gov)
  • Here, we report the generation of NLRP3-mutant and non-mutant induced pluripotent stem cell (iPSC) lines from two CINCA syndrome patients with somatic mosaicism, and describe their differentiation into macrophages (iPS-MPs). (nih.gov)
  • postzygotic somatic mosaicism accounts for the findings in these affected males. (medscape.com)
  • Postzygotic somatic mosaicism is also postulated for the sporadic female cases with negative family pedigree analysis. (medscape.com)
  • Somatic mosaicism in NLRP3 may explain the onset of later-in-life presentations of periodic fevers which are responsive to IL-1 blockade. (medscape.com)
Genetic38
  • Our observation underlines the importance of parental molecular testing for accurate genetic counseling of the risk of recurrence for Crouzon, and other paternal age-effect syndromes. (ox.ac.uk)
  • With such mutation within the gamete cells, a pair of medically typical individuals may have repeated succession of children who suffer from certain genetic disorders such as Duchenne muscular dystrophy and osteogenesis imperfecta because of germline mosaicism. (wikipedia.org)
  • Germline mosaicism may contribute to the inheritance of many genetic conditions. (wikipedia.org)
  • A Moroccan family consisting of two healthy unrelated parents and three offspring-including two with Noonan syndrome, a rare autosomal dominant disorder with varying expression and genetic heterogeneity-underwent genetic testing revealing that both of the siblings with NS share the same PTPN11 haplotype from both parents, while a distinct paternal and maternal haplotype was inherited by the unaffected sibling. (wikipedia.org)
  • Rare genetic and genomic syndromes have provided insights into the molecular, cellular and circuit changes that underlie autism and associated developmental delay syndromes. (biomedcentral.com)
  • Genetic mosaicism is only detected occasionally when there are no obvious health or developmental issues. (biomedcentral.com)
  • Most cases concern healthy parents in whom mosaicism is identified upon targeted testing of a genetic d. (biomedcentral.com)
  • Neurocutaneous Manifestations of Genetic Mosaicism. (medscape.com)
  • Down syndrome is a chromosomal condition (genetic) that occurs when an error in cell division results in an extra copy of chromosome 21. (downsyndrome-singapore.org)
  • Fragile X syndrome (FXS) is a rare genetic disorder that has a major effect on a person's life. (cdc.gov)
  • Such a pattern is defined as genetic mosaicism. (aacr.org)
  • Borrowing the term from art, genetic mosaicism describes the presence of two or more genetically diverse cell populations in an organism. (aacr.org)
  • Can genetic mosaicism lead to cancer? (aacr.org)
  • Next-generation sequencing technologies have allowed for higher sensitivity in detecting mosaicism and shed light on the genetic diversity occurring within an organism. (aacr.org)
  • Notably, the authors found that among patients carrying mosaic variants who underwent previous germline genetic testing, most had been reported as not carrying germline mutations, and only half of those who had an evaluable medical history met the criteria for germline genetic testing, suggesting that in certain cases when a germline mutation is ruled out, mosaicism may be the culprit. (aacr.org)
  • Together, these data demonstrate that human brain cells (both neurons and non-neuronal cells) can be aneuploid and that the resulting genetic mosaicism is a normal feature of the human CNS. (jneurosci.org)
  • Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome. (medscape.com)
  • McCune-Albright syndrome is a genetic disease that affects bone growth, skin pigmentation and hormone balance. (vic.gov.au)
  • The cause of McCune-Albright syndrome is a genetic change, but the reason for the change is not known. (vic.gov.au)
  • 7 About 10% to 20% of cases of craniosynostosis are linkedto a genetic syndrome. (contemporarypediatrics.com)
  • I was thinking about genetic mosaicism and androgen insensitivity syndrome. (eupedia.com)
  • A deletion of genetic material near the end of the short (p) arm of chromosome 17, that includes the PAFAH1B1 gene, causes Miller-Dieker syndrome. (medlineplus.gov)
  • Trisomy 21 - This type of Down's syndrome involves the presence of extra genetic material in the 21st pair of chromosomes. (iloveindia.com)
  • Objective: Phenotypes caused by de novo SCN1A pathogenic variants are very variable, ranging from severely affected patients with Dravet syndrome to much milder genetic epilepsy febrile seizures plus cases. (uu.nl)
  • Detection of mosaicism has important implications for genetic counseling and can be achieved by deep sequencing of unique reads. (uu.nl)
  • Fragile X syndrome is a genetic disorder that affects both males and females but males are more severely affected than females. (omicsonline.org)
  • Fragile X syndrome is a genetic disorder that affects both males and females but males are more severely affected compared to females. (omicsonline.org)
  • Down syndrome is caused by the presence of an additional duplicate of genetic material on part, if not all, of the 21st chromosome, and this is abnormal. (mightyguide.net)
  • The genetic material associated with Down syndrome can be linked to the mother as well as the father, but in most cases it is linked to the mother. (mightyguide.net)
  • Down syndrome, also called "daun syndrome" or "daum syndrome" among the people, is a genetic difference caused by a chromosomal abnormality that occurs by chance during pregnancy, it is not a disease. (mommemos.com)
  • Babies with Down syndrome have extra genetic material on the 21st chromosome pair in the body cell. (mommemos.com)
  • Down syndrome occurs due to a genetic difference. (mommemos.com)
  • Before we even did it, the genetic counselor talked to us about the possibilities of trisomy 21 and even more rare and highly unlikely mosaicism. (mosaicdownsyndrome.com)
  • Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. (cdc.gov)
  • Analysis of clinical manifestation and genetic mutations in two patients with Cornelia de Lange syndrome]. (cdc.gov)
  • Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome. (cdc.gov)
  • Genetic analysis of the G4.5 gene in families with suspected Barth syndrome. (lu.se)
  • 1. Subject has Fragile X syndrome with a molecular genetic confirmation of the full FMR1 mutation or mosaicism. (who.int)
Mutations13
  • However, even if this is the major mode of origin of mutations in paternal age-effect disorders, germline mosaicism may also occur. (ox.ac.uk)
  • Conditions that are inherited by means of germline mosaicism are often mistaken as being the result of de novo mutations. (wikipedia.org)
  • The frequency of germline mosaicism is not known due to the sporadic nature of the mutations causing it and the difficulty in obtaining the gametes that must be tested to diagnose it. (wikipedia.org)
  • Some individuals are born with germline (inherited) mutations in cancer susceptibility genes (CSGs) that put them at higher risk for developing certain cancers, such as hereditary breast and ovarian cancer, or cancer syndromes. (aacr.org)
  • 3 Although Apert syndrome has an autosomal dominant inheritance pattern, many cases are de novo mutations, 4 and 1 case of germinal mosaicism has been reported. (contemporarypediatrics.com)
  • 5 The syndrome is typically caused by 2 point mutations (S252W and P253R) and 2 Alu insertions in the fibroblast growth factor receptor 2 gene (FGFR2) located on chromosome 10q26. (contemporarypediatrics.com)
  • Mutations within the X linked MECP2 gene have been identified in patients with Rett syndrome (RTT), a neurodevelopmental disorder which affects females almost exclusively and which shares phenotypic overlap with AS. (bmj.com)
  • PAFAH1B1 gene mutations that cause subcortical band heterotopia are usually present in only some of the body's cells, a situation known as mosaicism. (medlineplus.gov)
  • Submitter supplied) Chronic infantile neurological cutaneous and articular (CINCA) syndrome is an IL-1-driven autoinflammatory disorder caused mainly by NLRP3 mutations. (nih.gov)
  • MEN1 is an autosomal dominant hereditary syndrome characterized by several endocrine tumors affecting parathyroids, pancreas, and anterior pituitary most of the time, due to inactivating mutations in the MEN1 gene. (endocrine-abstracts.org)
  • Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. (cdc.gov)
  • Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome. (cdc.gov)
  • Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. (lu.se)
Mutation11
  • 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. (wikipedia.org)
  • however, if these parents produce more than one child with an AD disorder, germline mosaicism is more likely the cause than a sporadic mutation. (wikipedia.org)
  • A mosaic activating mutation in AKT1 associated with the Proteus syndrome. (medscape.com)
  • We evaluated 128 participants with de novo, pathogenic SCN1A variants to investigate whether mosaicism, caused by postzygotic mutation, is a major modifier in SCN1A-related epilepsy. (uu.nl)
  • Analysis of NIPBL gene mutation in a patient with Cornelia de Lange syndrome]. (cdc.gov)
  • Gonadal mosaicism of a TAZ (G4.5) mutation in a Japanese family with Barth syndrome and left ventricular noncompaction. (lu.se)
  • Multiple transmissions of Barth syndrome through an oocyte donor with a de novo TAZ mutation. (lu.se)
  • A novel mutation in the G4.5 (TAZ) gene in a kindred with Barth syndrome. (lu.se)
  • Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome. (lu.se)
  • A novel intronic mutation of the TAZ ( G4.5) gene in a patient with Barth syndrome: creation of a 5' splice donor site with variant GC consensus and elongation of the upstream exon. (lu.se)
  • Mutation characterization and genotype-phenotype correlation in Barth syndrome. (lu.se)
Trisomy 2112
Translocation5
Phenotype3
  • That said, diverging from Mendelian gene inheritance patterns, a parent with a recessive allele can produce offspring expressing the phenotype as dominant through germline mosaicism. (wikipedia.org)
  • Bleeding Severity and Phenotype in 22q11.2 Deletion Syndrome-A Cross-Sectional Investigation. (harvard.edu)
  • Behavioral Phenotype and Autism Spectrum Disorders in Cornelia de Lange Syndrome. (cdc.gov)
Germline6
  • Pure germline mosaicism refers to mosaicism found exclusively in the gametes and not in any somatic cells. (wikipedia.org)
  • Germline mosaicism disorders are usually inherited in a pattern that suggests that the condition is dominant in either or both of the parents. (wikipedia.org)
  • Diseases caused by germline mosaicism can be difficult to diagnose as genetically-inherited because the mutant alleles are not likely to be present in the somatic cells. (wikipedia.org)
  • If the disease is a result of pure germline mosaicism, then the disease causing mutant allele would never be present in the somatic cells. (wikipedia.org)
  • Autosomal dominant or X-linked familial disorders often prompt prenatal testing for germline mosaicism. (wikipedia.org)
  • The recurrence rate of conditions caused by germline mosaicism varies greatly between subjects. (wikipedia.org)
Down's29
Occur1
  • Inflammatory linear verrucous epidermal nevus may occur with musculoskeletal abnormalities in a few children, prompting the classification of inflammatory linear verrucous epidermal nevus as part of epidermal nevus syndrome. (medscape.com)
Diagnosis4
  • Following the diagnosis, it was possible to elicit a history of regression in three of these patients, who by then were showing features suggestive of Rett syndrome. (bmj.com)
  • Fragile X cases have more than 200 repeats of the trinucleotide CGG at a fragile locus of the X chromosome (Xq27.3) which affords the basis of the molecular diagnosis of the syndrome. (omicsonline.org)
  • After examining the child, I decided to do some investigations that settled my provisional diagnosis of Fragile X syndrome with Autism Spectrum Disorder (ASD). (omicsonline.org)
  • We aimed to investigate change over time in incidence, prevalence and age at diagnosis among Turner syndrome (TS), Klinefelter syndrome (KS), Triple X syndrome (Triple X) and Double Y syndrome (Double Y). (biomedcentral.com)
Phenotypes3
  • Failed Progenitor Specification Underlies the Cardiopharyngeal Phenotypes in a Zebrafish Model of 22q11.2 Deletion Syndrome. (harvard.edu)
  • Participants with mosaicism have on average milder phenotypes, suggesting that mosaicism can be a major modifier of SCN1A-related diseases. (uu.nl)
  • In the 20 individuals with limited clinical information, additional phenotypes include Mungan syndrome (in patients with biallelic variants) and holoprosencephaly, with or without CdLS characteristics. (springer.com)
Chromosomal4
Clinical7
  • For example, both Fragile X and Rett syndrome have elucidated atypical biology associated with autism and have led to novel neurobiologically-based clinical trials. (biomedcentral.com)
  • High early mortality rates and a high rate of complications in Wiskott-Aldrich syndrome suggest frequent monitoring by a clinical immunologist is essential. (medscape.com)
  • Candotti F. Clinical Manifestations and Pathophysiological Mechanisms of the Wiskott-Aldrich Syndrome. (medscape.com)
  • Clinical spectrum, pathophysiology and treatment of the Wiskott-Aldrich syndrome. (medscape.com)
  • 7 Our own observations suggest that patients diagnosed with AS on clinical grounds alone have greater motor delay, are more likely to have some speech, and are less likely to have seizures and the characteristic Angelman syndrome EEG changes. (bmj.com)
  • The clinical picture and exclude the presence of any mosaicism. (who.int)
  • Of importance, clinical response to anti-IL-1 therapy does not always denote protection from autoinflammatory disease complications such as macrophage activation syndrome or amyloidosis. (medscape.com)
Diseases1
Manifestations2
  • Cutaneous manifestations in patients with Wiskott-Aldrich syndrome submitted to haematopoietic stem cell transplantation. (medscape.com)
  • Although there is no current curative treatment of Fragile X syndrome, there are many available therapeutic modalities that can be used to control its manifestations and improve the quality of life of its sufferers. (omicsonline.org)
Klinefelter6
  • In Klinefelter syndrome (KS) the topic of fertility vs. infertility is of major concern since that, until recent years, infertility was considered an untreatable condition in KS. (springer.com)
  • Wikstrom AM, Raivio T, Hadziselimovic F, Wikstrom S, Tuuri T, Dunkel L. Klinefelter syndrome in adolescence: onset of puberty is associated with accelerated germ cell depletion. (springer.com)
  • Aksglaede I, Juul A. Testicular function and fertility in men with Klinefelter syndrome: a review. (springer.com)
  • Klinefelter syndrome: an argument for early aggressive hormonal and fertility management. (springer.com)
  • Infertility in patients with Klinefelter syndrome: optimal timing for sperm and testicular tissue cryopreservation. (springer.com)
  • Plotton I, Giscard d'Estaing S, Cuzin B, Brosse A, Benchaib M, Lornage J, Ecochard R, Dijoud F, Lejeune H. Preliminary results of a prospective study of testicular sperm extraction in young versus adult patients with nonmosaic 47,XXY Klinefelter syndrome. (springer.com)
Chromosomes6
Hereditary1
  • Research has indicated that mosaicism affecting CSGs can be associated with hereditary predisposition syndromes. (aacr.org)
Fragile X syndro2
  • Fragile X syndrome: Learning what families need, one person at a time. (cdc.gov)
  • Over time, and thanks to the early support of the FXCRC by the Centers for Disease Control (CDC) , and their later support of the ongoing FORWARD Project (a longitudinal, natural history study of Fragile X syndrome ), some of the newly edited documents about Fragile X syndrome will include evidence-based recommendations. (fragilex.org)
Angelman4
  • Angelman syndrome (AS) is a neurodevelopmental disorder characterized by intellectual disability, speech and motor impairments, epilepsy, abnormal sleep, and phenotypic overlap with autism. (biomedcentral.com)
  • The inability to analyze gene expression in living neurons from Angelman (AS) and Duplication 15q (Dup15q) syndrome subjects has limited our understanding of these disorders at the molecular level. (biomedcentral.com)
  • Angelman syndrome (AS) is a neurodevelopmental disorder characterised by severe mental retardation, absent speech, ataxia, sociable affect, and dysmorphic facial features. (bmj.com)
  • Angelman syndrome (AS) is a neurodevelopmental disorder characterised by severe mental retardation, inability to speak, ataxia, dysmorphic facial features, and a seizure disorder associated with a characteristic EEG appearance. (bmj.com)
Paternal1
Mosaic Down syndrome1
Chromosome 214
  • Mosaicism was studied by interphase fluorescence in-situ hybridization (FISH), using a specific probe for chromosome 21 (21q22.13-21q22.2) in 78 cases suspected of DS. (nih.gov)
  • It is primarily caused by trisomy of chromosome 21 (see the image below), which gives rise to multiple systemic complications as part of the syndrome. (medscape.com)
  • If a few, or all cells have an additional Y -chromosome (in males), complete ,or partial duplicate of chromosome 21, then this is evidence that Down syndrome is present. (mightyguide.net)
  • The additional part of chromosome 21 will cause a person with Down syndrome to appear physically normal, as well as put them at greater risk of giving birth to a child with an extra 21st chromosome. (mightyguide.net)
Child with Down syndrome2
Buccal1
  • To rule out tissue specific mosaicism, buccal cells or amniocytes were analysed in addition to blood in 20 DS cases. (nih.gov)
Gene1
Sporadic1
  • Solomon defines epidermal nevus syndrome as a sporadic neurocutaneous linkage of congenital ectodermal defects in the skin, brain, eyes, and/or skeleton. (medscape.com)
Autosomal1
  • First described by Wheaton 1 in 1894 and later by Apert in 1906, 2 Apert syndrome, or acrocephalosyndactyly, is an autosomal dominant malformation syndrome characterized by craniosynostosis, midface hypoplasia, syndactyly, and various visceral abnormalities. (contemporarypediatrics.com)
22q11.22
  • Abnormalities in gray matter microstructure in young adults with 22q11.2 deletion syndrome. (harvard.edu)
  • Confined placental mosaicism for 22q11.2 deletion as the etiology for discordant positive NIPT results. (harvard.edu)
Cornelia de Lange2
  • RAD21 encodes a key component of the cohesin complex, and variants in RAD21 have been associated with Cornelia de Lange Syndrome (CdLS). (springer.com)
  • A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome. (cdc.gov)
Approximately1
Variants4
  • Methods: Mosaicism was investigated by reanalysis of the pathogenic SCN1A variants using single molecule molecular inversion probes and next generation sequencing with high coverage. (uu.nl)
  • Allelic ratios of pathogenic variants were used to determine whether mosaicism was likely. (uu.nl)
  • Results: Mosaicism was present for 7.5% of de novo pathogenic SCN1A variants in symptomatic patients. (uu.nl)
  • Exome sequencing in families with severe mental illness identifies novel and rare variants in genes implicated in Mendelian neuropsychiatric syndromes. (cdc.gov)
Neurodevelopmental disorder1
  • Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by psychiatric and neurological features. (biomedcentral.com)
Deletion4
  • 22q11 Deletion Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)
  • This graph shows the total number of publications written about "22q11 Deletion Syndrome" by people in Harvard Catalyst Profiles by year, and whether "22q11 Deletion Syndrome" was a major or minor topic of these publication. (harvard.edu)
  • Below are the most recent publications written about "22q11 Deletion Syndrome" by people in Profiles. (harvard.edu)
  • Frontal Hypoactivation During a Working Memory Task in Children With 22q11 Deletion Syndrome. (harvard.edu)
Prenatal2
  • Prenatal screening tests are conducted to help assess the child's DNA in the mother's blood (prenatal cell-free DNA screening or noninvasive prenatal screening), which may help identify the risk of Turner syndrome. (medicinenet.com)
  • A prenatal diagnostic test can determine with almost 100% accuracy that Down syndrome is present. (downsyndrome-singapore.org)
Symptoms of Down syndrome1
Features of Down syndrome2
Congenital heart d1
Developmental4
Hormonal1
  • Despite hormonal irregularities, most women with McCune-Albright syndrome are fertile. (vic.gov.au)
Turner10
Seizures1
Intrauterine1
  • These results suggest that mechanism(s) other than mosaicism may exist for the intrauterine and postnatal survival of DS cases. (nih.gov)
Trimester1
  • The main characteristic features of the 2nd trimester histories were irrelevant and syndrome are distinct facial features delay the pregnancy was completed at term by in using expressive language, short stature spontaneous vaginal delivery and cephalic and delayed bone age [4-7]. (who.int)
Disorders1
  • Several functional disorders and physical stigmata, such as mental abnormalities, susceptibility to infections, and hypotonic muscle function are associated with this syndrome 1-2 . (bvsalud.org)
Rett1
  • Rett syndrome (RTT) is a disorder which is seen almost exclusively in females. (bmj.com)