Paternal uniparental disomy of chromosome 14 journal of. This is known as paternal uniparental disomy pat upd. The genedx prenatal targeted array is a combined cgh and snp array for detecting copy number changes and uniparental disomy. Fah sathirapongsasuti3,6 meiotic nondisjunction and resulting aneuploidy can. Itzel bustos villalobos, yoshiyuki takahashi, yoshiki akatsuka, hideki muramatsu, nobuhiro nishio, asahito hama, hiroshi yagasaki, hiroh saji, motohiro kato, seishi ogawa, seiji kojima. Isodisomy is a nonmendelian trait in humans caused by both copies of a chromosome pair being inherited from the biological mother or the father. Brainstem serotonin transporter availability in maternal. Document on the request form or electronic order that a copy is on file. Here we reported a case of concomitant upd14mat and mosaic trisomy 14 in a 10yearold chinese patient. Retrieved 29 february and, since isochromosomes for acrocentrics have now just been mentioned, let me show, again from literature, some examples of upd resulting from the presence of two isochromosomes per balanced individual genomes, namely one for each arm of a biarmed chromosome such a number 1, 2 twice4, 7 or 9. The following documents are available in special instructions. Cells with uniparental disomy upd may have a normal cytogenetic karyotype but are unbalanced in terms of parental contribution. In some cases, however, only one of the two copies is normally.
The following definitions may foster a better understanding of this discussion. Sometimes a baby can inherit two copies of one of the fathers chromosomes and no copies of that chromosome from hisher mother. There are 46 chromosomes per cell, arranged as pairs numbered 1 to 22 and the sex chromosome pair, two xs. Genomic imprinting and uniparental disomy are factors that influence how some genetic conditions are inherited. Article characterization of prevalence and health consequences of uniparental disomy in four million individuals from the general population priyanka nakka, 1,23 samuel pattillo smith, anne h.
Angelman syndrome as and praderwilli syndrome pws are examples of disorders that can be caused by uniparental disomy. Snp array analysis was performed with the use of the affymetrix 10k 2. Relapse of leukemia with loss of mismatched hla resulting from uniparental disomy after haploidentical hematopoietic stem cell transplantation. With uniparental disomy upd, the presence in a diploid genome of a chromosome pair derived from one genitor carries two main types of.
Uniparental disomy chromosome 15 general information lab order codes. Nonpathologicalpaternalisodisomyofchromosome 2 detected. Uniparental disomy in an individual with a normal chromosome analysis is a novel mechanism for the occurrence of human genetic disease. Uniparental disomy upd refers to a condition in which two homologous chromosomes or chromosomal regions are inherited from one parent. Diagnosis of upd thus requires genotyping the patient and parental dna samples, i. Usually both copies of each gene are active, or turned on, in cells. A combination of the two events in one individual is rarely encountered. A fascination with chromosome rescue in uniparental disomy nature.
Prenatal and postnatal diagnostic testing for uniparental disomy. Pubmed is a searchable database of medical literature and lists journal articles that discuss chromosome 1, uniparental disomy 1q12 q21. Mosaic genomewide paternal uniparental disomy in an individual without features of beckwithwiedemann syndrome spiteri e 1, jasperson k, bandholz a1, umali m1, scaife2 c, gammon a3 1 ambry genetics, aliso viejo, ca. The book thoroughly documents the early years of the recognition of the importance of genomic imprinting and uniparental disomy in human biology and medicine. Uniparental disomy, varies mayo clinic laboratories. Epub feb maternal uniparental disomy 14 temple syndrome as a result of a. This is known as maternal uniparental disomy mat upd. Uniparental disomy would be expected to occur in onethird of such cases. Clinical implications for genetic counseling by amy elizabeth cox b.
Pdf mosaic uniparental disomy in beckwithwiedemann. Uniparental disomy refers to the situation in which 2 copies of a chromosome come from the same parent, instead of 1 copy coming from the mother, and 1 copy coming from the father. Maternal uniparental disomy 14 and mosaic trisomy 14 in a. Medical laboratory for haemogenetics, kiel, institute of human biology, university of hamburg a. It differs from uniparental disomy in that instead of receiving an identical pair of chromosomes from one parent, the fertilized ovum contains a complete pair of chromosomes from one parent resulting in a complete pair of chromosomes from only one. Additionally, isodisomy leads to large blocks of homozygosity, which may lead to the uncovering of recessive genes, a similar phenomenon seen in. Characterization of prevalence and health consequences of uniparental disomy in four million individuals from the general population. Nurturing the next generation mosaicism and uniparental disomy in prenatal diagnosis thomas eggermann1, lukas soellner1, karin buiting2, and dieter kotzot3 1institute 2 of human genetics, rwth university hospital, aachen, germany.
Uniparental disomy of chromosome 2 genetic and rare. Information from its description page there is shown below. Molecular detection of uniparental disomy springerlink. Typically, a person should receive one copy from each parent. Get a printable copy pdf file of the complete article 853k, or click on a page. Pcr and microsatellite markers on the chromosome of interest are used to test dna from parents and child for the presence of uniparental disomy. Uniparental disomy an overview sciencedirect topics.
Uniparental disomy is found on only one chromosome in roughly 1 in 2000 people in the reference samples utilized at 23andme. Uniparental disomy upd arises when an individual inherits two copies of a particular chromosome from the same parent, either maternal or paternal, and no. Uniparental disomy for portions of human chromosomes 6, 7, 9, 11, 14 and 15 have been associated. The best examples of this are praderwilli and angelman syndromes in which maternal and paternal uniparental disomy for chromosome 15, respctively, are reported. For example, either isodisomy or heterodisomy can disrupt parentspecific genomic imprinting, resulting in imprinting disorders. Paternal uniparental isodisomy for human chromosome 20 and.
For language access assistance, contact the ncats public. Upd uniparental disomy describes the inheritance of a pair of chromosomes from only one parent. Maternal uniparental disomy upd for chromosome 2 discovered by exclusion of paternity article in american journal of medical genetics 924. 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. Uniparental disomy 14, also known as upd14, is a chromosome disorder. The purpose of this study was to validate chromosomal microarray analysis for the identification of uniparental. It was known and previously believed to occur in 1 of 3,500 births, but that frequency has been updated to 1 in 2,000 in the paper. Get a printable copy pdf file of the complete article. Nine pregnancies with trisomy 16 confined to the placenta were prenatally diagnosed. Upd for chromosome 15 is one of the mechanisms leading to angelman syndrome and praderwilli syndrome. Uniparental disomy upd implies that two copies of a given chromosome or chromosome segment have been inherited from one parent with no contribution at these loci coming from the other parent. Uniparental disomy upd in clinical genetics a guide for.
Maternal uniparental disomy upd for chromosome 2 discovered by exclusion of paternity. Segmental uniparental disomy is an excellent model to explain fundamental genetic rules. The coat hanger rib appearance and omphalocele combination has been found to be a useful marker of the rare condition, paternal uniparental disomy. Uniparental disomy carries a risk for recessive diseases. Acquired homozygosity in the form of segmental acquired uniparental disomy aupd has been described in follicular lymphoma fl and is usually due to mitotic recombination. Mechanisms that lead to upd include trisomy rescue. Pdf uniparental disomy as a cause of pediatric endocrine. Research letter nonpathologicalpaternalisodisomyofchromosome 2 detected from a genomewide snp scan matthewc. Evaluation of patients presenting with mosaicism, confined placental mosaicism, or robertsonian translocations evaluation of patients presenting with features of disorders known to be associated with uniparental disomy eg, russellsilver syndrome evaluation of disease mechanism in individuals with rare autosomal recessive disease and only one carrier parent. Establish the parent of origin for syndromes that may result from singleparent inheritance of bot homologues of a specific chromosome pair containing imprinted genetic loci. Chromosome 1, uniparental disomy 1q12 q21 genetic and. Mosaic genomewide paternal uniparental disomy in an. Mosaicism and uniparental disomy in prenatal diagnosis.
Full text full text is available as a scanned copy of the original print version. Both maternal uniparental disomy 14 upd14mat and mosaic trisomy 14 are rare events in live individuals. The usual indication for postnatal uniparental disomy upd testing is a characteristic clinical phenotype present in a patient. Uniparental disomy up d, the inh eritance of both homologues of a chromosome from only one parent, was first proposed by eric engel in 1980 1, however, another eight years passed. View enhanced pdf access article on wiley online library html view download pdf for offline viewing. Recombination errors around meiosis and early thereafter are very frequent as, among others, seen from segmental uniparental disomy cases. Praderwilli syndrome pws is a rare genetic disorder, with a uk population prevalence of 1 in 52 000.
Imprinted genes are monoallelically expressed in a parentoforigin. Pdf uniparental disomy and imprinting disorders researchgate. This book focus on genetic diagnostics for uniparental disomy upd. Duplicate copies of parental chromosomes uniparental disomy. Recent studies have shown that upd is not rare among the general population, arising from trisomy rescue, gamete complementation, and other mechanisms. Characterization of prevalence and health consequences of. People inherit two copies of their genesone from their mother and one from their father. Click on the link to view a sample search on this topic. Loss of one homologue in a trisomy conceptus theoretically results in upd. The genedx prenatal targeted array is a combined cgh and snp array for detecting copy number changes and uniparental disomy upd, respectively. Uniparental disomy may have clinical relevance for several reasons. Chromosomes are the microscopically small structures in the nucleus of the bodys cells that carry genetic information. If you have problems viewing pdf files, download the latest version of adobe reader. Uniparental disomy as a mechanism for human genetic disease.
Trisomy of chromosome 7, 9, 15, or 16 is most common among the gestations with these dichotomic cpms. Uniparental disomy ted from the mother and one from the father. American college of medical genetics statement on diagnostic. What are genomic imprinting and uniparental disomy. Uniparental disomy testing is available for all chromosomes. Genomic imprinting and uniparental disomy in medicine will stand as a landmark contribution in biology and medicine. Uniparental disomy was found in 1 of 50,000 people.
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