Mosaicism and uniparental disomy in prenatal diagnosis. People inherit two copies of their genesone from their mother and one from their father. For example, either isodisomy or heterodisomy can disrupt parentspecific genomic imprinting, resulting in imprinting disorders. Nine pregnancies with trisomy 16 confined to the placenta were prenatally diagnosed. Evaluation of disease mechanism in individuals with rare autosomal recessive disease and only one carrier parent. Aneuploidy rescue can restore euploidy but may result in uniparental disomy upd, the inheritance of both homologs of a chromosome from one parent with no representative copy from the other. A previous bone marrow transplant from an allogenic donor will interfere with testing. At 7 years of age he was referred to us by the paediatrician because of symptoms of praderwilli syndrome pws.
Uniparental disomy upd, the inheritance of both homologues of a chromosome from only. Usually both copies of each gene are active, or turned on, in cells. Characterization of prevalence and health consequences of. In a populationbased study of prader willi syndrome pws, we investigated the relation between genetic subtypes of the syndrome and psychiatric morbidity.
Uniparental disomy upd is an atypical inheritance pattern in which both members of a upd is an. Classification of uniparental isodisomy patterns that cause. The history further indicated intrauterine growth retardation at the end of the pregnancy. Uniparental maternal disomy 6 in a renal transplant patient. We report on two infants with praderwilli syndrome caused by mosaic maternal uniparental disomy 15.
Uniparental disomy has been reported in both praderwilli syndrome and angelmans syndrome. Maternal uniparental disomy 7 in silverrussell syndrome. Uniparental disomy 7 in silverrussell syndrome and. Mosaic uniparental disomy in beckwithwiedemann syndrome. Chapter 2 detection of uniparental disomy and imprinting by dna. Maternal uniparental disomy for chromosome 14 in a boy with a. 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 may have clinical relevance for several reasons. Chromosomal mosaicism is the presence of numerous cell lines with different chromosomal complements in the same individual. Isodisomy article about isodisomy by the free dictionary.
Characterization of prevalence and health consequences of uniparental disomy in four million individuals from the general population. We present a case of maternal upd for chromosome 6, a rare condition previously reported. Pubmed is a searchable database of medical literature and lists journal articles that discuss uniparental disomy of chromosome 2. Genomic imprinting and uniparental disomy in medicine. Trisomy of chromosome 7, 9, 15, or 16 is most common among the gestations with these dichotomic cpms. A type of uniparental disomy in which two copies of the same chromosome are inherited from one parent, with resultant homozygosity at all gene loci on the. The coat hanger rib appearance and omphalocele combination has been found to be a useful marker of the rare condition, paternal uniparental disomy upd of chromosome 14, 1 which was. It is usually sporadic although a few familial cases have been described. Dec 20, 2018 uniparental disomy upd is a rare condition in which a child inherits both copies of a chromosome or chromosome segment from one parent. Uniparental disomy an overview sciencedirect topics. The genedx prenatal targeted array is a combined cgh and snp array for detecting copy number changes and uniparental disomy upd, respectively. Click on the link to view a sample search on this topic. Pregnancy outcome, levels of trisomic cells in term placentas, and fetal uniparental disomy were studied. We report on a boy with a maternal uniparental disomy for chromosome 14 upd14.
Silverrussell syndrome srs is characterised by intrauterine and postnatal growth failure accompanied by a variable number of dysmorphic features. Uniparental disomy 14 uniparental disomy 14, also known as upd14, is a chromosome disorder. Angelman syndrome as and praderwilli syndrome pws are examples of disorders that can be caused by uniparental disomy. For optimal interpretation of results, 3 specimens are required to perform this test.
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. The coat hanger rib appearance and omphalocele combination has been found to be a useful marker of the rare condition, paternal uniparental disomy. Silverrussell syndrome srs is a growth retardation disorder with a very broad molecular and clinical spectrum. No evidence for uniparental disomy of the sex chromosomes in. Uniparental disomy upd in clinical genetics a guide for. Uniparental disomy how is uniparental disomy abbreviated. Meiotic nondisjunction and resulting aneuploidy can lead to severe health consequences in humans.
Maternal uniparental isodisomy for chromosome 6 discovered by. Uniparental disomy upd is a rare condition in which a child inherits both. Jan 01, 2000 uniparental disomy of the human chromosomes 7, 11, 14 and 15 can adversely affect the male reproductive system meschede and horst, 1997. Each specimen must have a separate order for uniparental disomy unipd uniparental disomy. This book focus on genetic diagnostics for uniparental disomy upd, a chromosomal. Uniparental disomy upd is the inheritance of both copies of a given chromosome from the same parent warburton, 1988. In addition to child or fetal specimen, a blood specimen from both parents is required. Mar 11, 2016 furthermore, maternal uniparental disomy of chromosomes 6, 16 and 20 can be observed, but are rare. This authoritative, completely uptodate practical reference will be useful for any clinical geneticist, genetic.
What are genomic imprinting and uniparental disomy. 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. Cytogenetic contribution to uniparental disomy upd molecular. Uniparental disomy of chromosome 2 genetic and rare. Uniparental disomy definition of uniparental disomy by. The majority of cases were ascertained because of an abnormal phenotype associated with a robertsonian translocation involving chromosome 14.
These genetic anomalies arise from errors in meiosis andor mitosis and can occur independently or in combination. Thus far, nothing is known about the effect that sex chromosome uniparental disomy would have on human male fertility. To our knowledge, 22 cases of chromosome 14 maternal uniparental disomy. We report here on a child with upd14mat detected prenatally and resulting from trisomy rescue in a maternal meiosis i nondisjunction. Call 8005331710 for instructions for testing patients who have received a bone marrow transplant. Maternal uniparental disomy of chromosome 20 upd20mat has been reported in only four patients, three of whom also had mosaicism for complete or. Pdf uniparental maternal disomy 6 in a renal transplant. There are 46 chromosomes per cell, arranged as pairs numbered 1 to 22 and the sex chromosome pair, two xs. Psychotic illness in people with prader willi syndrome due to. Genomic imprinting and uniparental disomy in medicine features handy tables summarizing clinical phenotypes and chromosomal involvement in upd, as well as clear illustrations on imprinting mechanisms and diagnostic testing. Chromosomes are the microscopically small structures in the nucleus of the bodys cells that carry genetic information. Nov 26, 2019 uniparental disomy upd is the rare occurrence of two homologous chromosomes originating from the same parent and is typically identified by marker analysis or singlenucleotide polymorphism snp. Uniparental disomy ted from the mother and one from the father.
Pdf paternal uniparental disomy of chromosome 14 and unique. Detection of a mosaic cell line provides a unique opportunity to understand the mechanism of uniparental disomy. To our knowledge, 22 cases of chromosome 14 maternal uniparental disomy upd14mat have been reported so far. Isodisomy is a nonmendelian trait in humans caused by both copies of a chromosome pair being inherited from the biological mother or the father. Uniparental definition is having, involving, or derived from a single parent. It requires molecular analysis to show that the two chromosomes originated from the same parent.
Uniparental definition of uniparental by merriamwebster. Uniparental disomy upd in clinical genetics springerlink. Paternal uniparental disomy of chromosome 14 journal of. Upd for chromosome 15 is one of the mechanisms leading to angelman syndrome and praderwilli syndrome. Pdf mosaic uniparental disomy in beckwithwiedemann. Human maternal uniparental disomy for chromosome 16 and fetal. Pdf to investigate the involvement of uniparental disomies upds in spontaneous abortion, the polymorphic. Maternal uniparental disomy for the entire chromosome 7 has so far been reported in three patients with intrauterine and postnatal growth retardation. Maternal uniparental disomy upd for chromosome 2 discovered. The seven people affected, all aged 28 years or older, included all five with.
Pdf uniparental disomy and imprinting disorders researchgate. Maternal uniparental heterodisomy of chromosome 14. Dissomia uniparental pdf 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. Of 25 patients aged 18 years or older, seven 28% had severe affective disorder with psychotic features, with a mean age of onset of 26 years sd 59. He showed short stature, obesity, mild developmental delay, cryptorchidism, and some mild dysmorphic features. Examinations of maternal uniparental disomy and epimutations. Accurate detection of clinically relevant uniparental disomy. Additionally, isodisomy leads to large blocks of homozygosity, which may lead to the uncovering of recessive genes, a similar phenomenon seen in. Maternal uniparental disomy of chromosome 14, paternal deletions and loss of methylation at the intergenic differentially methylated region igdmr result in a human. Uniparental disomy, varies mayo clinic laboratories rochester. The exact disease associations of upd of individual chromosomes have yet to be fully elucidated and the question of whether upd of some chromosomes may be regarded as a benign finding remains unanswered. Uniparental disomy upd refers to a condition in which two homologous chromosomes or chromosomal regions are inherited from one parent. Cytogenetic analysis will not detect uniparental disomy because the chromosomal numbers are preserved.
Maternal uniparental disomy upd for chromosome 2 discovered by exclusion of paternity. 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 is the inheritance of two homologous chromosomes from the same parent. Epub feb maternal uniparental disomy 14 temple syndrome as a result of a. Pubmed is a searchable database of medical literature and lists journal articles that discuss chromosome 1, uniparental disomy 1q12 q21. In case they occur they can be regarded as causative for clinical features. This book focus on genetic diagnostics for uniparental disomy upd. Pdf uniparental disomy as a cause of pediatric endocrine. Mosaic maternal uniparental disomy of chromosome 15 in prader. Medical consequences of upd may include abnormal imprinting, unmasking of genetic disease, and somatic mosaicism. Mar 31, 2020 genomic imprinting and uniparental disomy are factors that influence how some genetic conditions are inherited. Uniparental disomy upd is often considered as an event to be characterized exclusively by molecular genetic or epigenetic approaches. Chromosome 1, uniparental disomy 1q12 q21 genetic and rare.
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