• Uniparental disomy (UPD) occurs when a person receives two copies of a chromosome, or of part of a chromosome, from one parent and no copy from the other. (wikipedia.org)
  • However, if the UPD-causing event happened during meiosis II, the genotype may include identical copies of the uniparental chromosome (isodisomy), leading to the manifestation of rare recessive disorders. (wikipedia.org)
  • Genomic imprinting effects have been implicated in familial and non-familial BWS, and uniparental disomy (UPD) for chromosome 11 has been reported in sporadic cases. (bmj.com)
  • Diagnosis of maternal uniparental disomy of chromosome 7 with a methylation specific PCR assay. (elsevierpure.com)
  • Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villi. (thieme-connect.com)
  • A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomalies. (thieme-connect.com)
  • Uniparental disomy of chromosome 7 (UPD7) was analyzed by short tandem repeats typing. (nih.gov)
  • Maternal uniparental disomy of chromosome 14, paternal deletions and loss of methylation at the intergenic differentially methylated region (IG-DMR) result in a human phenotype of low birth weight, hypotonia, early puberty and markedly short adult stature. (bmj.com)
  • Temple syndrome (TS) is an imprinting disorder that was first described by Temple et al in 1991 in a report of a male aged 18 years with maternal uniparental disomy of chromosome 14. (bmj.com)
  • The remainder have two maternal chromosome 15s and no paternal 15 (maternal uniparental disomy). (hoagiesgifted.org)
  • Paternal uniparental isodisomy of chromosome 6 and heterozygous KCNJ11 and ABC88 mutation were the mutations found. (soton.ac.uk)
  • Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1. (lu.se)
  • Mosaic genome-wide paternal uniparental disomy (GW-pUPD) is a rarely recognised disorder. (lu.se)
  • Methylation analysis, SNP-based chromosomal microarray and short tandem repeat markers analysis revealed mosaic segmental paternal uniparental disomy (UPD) 11p15.5-p15.1 in the pancreatic tissue, but not the peripheral blood, suggestive of BWS/BW-spectrum HI. (biomedcentral.com)
  • Herein, we report a case of a large-for-gestational-age infant with medically refractory HI due to a paternally transmitted K ATP mutation, who was subsequently diagnosed with mosaic BWS related to mosaic segmental pUPD (paternal uniparental disomy) 11 based on molecular testing of the pancreatic lesion. (biomedcentral.com)
  • What are genomic imprinting and uniparental disomy? (medlineplus.gov)
  • Genomic imprinting and uniparental disomy are factors that influence how some genetic conditions are inherited. (medlineplus.gov)
  • Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review. (qxmd.com)
  • Here, I review the role of uniparental disomy and genomic imprinting in the pathogenesis of AS and PWS, and briefly discuss phenotype-genotype correlations using candidate genes and mouse models, in particular for hypopigmentation. (qxmd.com)
  • Background: Complex genomic rearrangements (CGRs) consisting of interstitial triplications in conjunction with uniparental isodisomy (isoUPD) have rarely been reported in patients with multiple congenital anomalies (MCA)/intellectual disability (ID). (tokushima-u.ac.jp)
  • The pre- and postnatal genetic tests (noninvasive prenatal testing, array comparative genomic hybridization, karyotype in amniotic fluid cells, karyotype in peripheral blood, and uniparental disomy analysis) revealed the fetal chromosomal status and indicated etiology giving rise to the mosaicism, suggesting a prezygotic meiotic error corrected through late trisomic rescue in the zygote. (thieme-connect.com)
  • Uniparental inheritance of imprinted genes can also result in phenotypical anomalies. (wikipedia.org)
  • Although few imprinted genes have been identified, uniparental inheritance of an imprinted gene can result in the loss of gene function, which can lead to delayed development, intellectual disability, or other medical problems. (wikipedia.org)
  • Whether AS or PWS arises depends on the parental origin of a deletion or uniparental disomy (the inheritance of 2 copies of a genetic locus from only one parent) for 15q11-q13. (qxmd.com)
  • 1980. Uniparental inheritance of atrazine resistance in Chenopodium album. (weedscience.org)
  • Examination of double uniparental inheritance of mitochondrial deoxyribonucleic acid (DNA) is providing new insights into the evolution of this order. (bioone.org)
  • Genome wide UPD, also called uniparental diploidy, is when all chromosomes are inherited from one parent. (wikipedia.org)
  • DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome. (nih.gov)
  • Talk to your healthcare provider or a genetic counselor to learn more about uniparental disomy. (chkd.org)
  • Putting aside the 'hocus pocus' autosomal analysis for a moment, I was quite intrigued by the more concrete uniparental relative frequency images published in the supplemental material, not a lot of clarity is attached with these images however as the actual numbers are not given. (blogspot.com)
  • Quantitative analysis of somatically acquired and constitutive uniparental disomy in gastrointestinal cancers. (bvsalud.org)
  • Maternal uniparental disomy of chromosome 7 (matUPD(7)), the inheritance of both copies of chromosome 7 exclusively from the mother, occurs in approximately 10% of Silver-Russell syndrome (SRS) patients. (bmj.com)
  • 23 Paternal uniparental disomy of chromosome 7 has no effect on growth and development. (bmj.com)
  • Follow this link to review classifications for Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 in Orphanet. (nih.gov)
  • Maternal uniparental disomy of chromosome 22 is a uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. (cdc.gov)
  • Differentiation of uniparental human embryonic stem cells into granulosa cells reveals a paternal contribution to gonadal development. (bvsalud.org)
  • Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy. (ox.ac.uk)
  • Microsatellite analysis demonstrated mosaic segmental paternal uniparental isodisomy (UPD) of 11pter-11p14 in the proband that encompassed the ABCC8 gene and the BWS locus. (ox.ac.uk)
  • Prader-Willi syndrome is a neurobehavioral disorder in which the expression of active paternal alleles of imprinted genes from chromosomal region 15q11-q13 is abolished by deletions, maternal uniparental disomy or imprinting defects. (nel.edu)
  • Increased Parental Ages and Uniparental Disomy 15: A Paternal Age Effect? (karger.com)
  • Genetic aberrations affecting the imprinted gene cluster in 14q32 result in distinct phenotypes, known as maternal or paternal uniparental disomy 14 phenotypes (upd(14) mat, upd(14) pat). (uni-koeln.de)
  • Methylation study on 15q11-13 imprinted region would identify 75-80% of AS that included maternal deletion, paternal uniparental disomy (UPD), and imprinting center defect. (hindawi.com)
  • In contrast, mitotic recombination in ES cells appeared to be suppressed and chromosome loss/reduplication, leading to uniparental disomy (UPD), represented more than half of the loss of heterozygosity events. (nih.gov)
  • Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease. (nih.gov)
  • Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype? (bmj.com)
  • RESULTS: In 1 patient, homozygosity mapping and subsequent segregation analysis revealed maternal uniparental disomy (UPD) of chromosome 6. (eyehospital.nl)
  • No case of either syndrome in the child of an individual with PWS through uniparental disomy (two copies of chromosome 15 from the mother and none from the father) has ever been reported, but they are theoretically possible. (nih.gov)
  • In both syndromes, three types of molecular alterations have been reported: uniparental disomy 14, deletions and epimutations. (uni-koeln.de)
  • In contrast to uniparental disomy and epimutations, deletions affecting regulatory elements in 14q32 are associated with a high-recurrence risk. (uni-koeln.de)
  • Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation. (nel.edu)
  • Of the 65 cases identified with disease-causing variants,12 had chromosomal disorders, 54 had monogenic disorders, and one had uniparental disomy. (genomeweb.com)
  • Uniparental disomy (UPD) occurs when a person receives two copies of a chromosome, or of part of a chromosome, from one parent and no copy from the other. (wikipedia.org)
  • However, if the UPD-causing event happened during meiosis II, the genotype may include identical copies of the uniparental chromosome (isodisomy), leading to the manifestation of rare recessive disorders. (wikipedia.org)
  • Uniparental disomy means the child inherited a particular gene pair (both copies of the gene) from one parent only. (vic.gov.au)
  • Among the major contributors to disease are de novo eventsin which a single change occurs for the first time in the make-up of a gene (known as a Mendelian mutation) in a patient, uniparental disomy (in which a person inherits two copies of a mutation from the same parent), mosaicism and copy number, she said. (scienceblog.com)
  • A hypothesis of maternal uniparental disomy (UPD) was investigated using fourteen microsatellite markers on chromosome 16, and the results confirmed maternal UPD. (unicatt.it)
  • We also characterized a number of haplogroup diagnostic markers in the mtDNA and Y-chromosome in order to evaluate admixture using uniparental markers. (blogspot.com)
  • The results of the analyses of uniparental markers were concordant with those observed in the autosomes. (blogspot.com)
  • Complete uniparental chromosome elimination occurs in several interspecific hybrids of plants. (ac.rs)
  • TY - JOUR AU - Gernand, D. AU - Rutten, T. AU - Varshney, A. AU - Rubtsova, M. AU - Prodanović, Slaven AU - Brüß, C. AU - Kumlehn, J. AU - Matzk, Fritz AU - Houben, A. PY - 2005 UR - http://aspace.agrif.bg.ac.rs/handle/123456789/879 AB - Complete uniparental chromosome elimination occurs in several interspecific hybrids of plants. (ac.rs)
  • This unusual form of uniparental gene expression, called imprinting, is not restricted to plants, but also occurs in some human genes which are known to regulate the development of the placenta to control the supply of maternal nutrients during fetal growth. (warwick.ac.uk)
  • Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the TMCO1 and PRKRA genes. (tcd.ie)
  • DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome. (nygenome.org)