Harrison K, Eisenger K, Anyane-Yeboa K, Brown S. (1995) Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture. American Journal of Medical Genetics, 58(2):147-151. PubMed. Heide E, Heide K-G, Rodewald A. (2000) Maternal uniparental disomy (UPD) for chromosome 2 discovered by exclusion of paternity Uniparental disomy. Department of Medical Genetics, University of British Columbia. Department of Medical Genetics, University of British Columbia. Archived from the original on 2002-06-17 2 of Human Genetics, RWTH University Hospital, Aachen, Germany Trisomy/Disomy No mosaicism Monosomy/Disomy Trisomy/Disomy both maternal and paternal UPDs have. Mosaic trisomy 2 at amniocentesis: Prenatal diagnosis and molecular genetic analysis mosaic trisomy 2 and maternal Maternal uniparental disomy for chromosome. maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias, and oligohydramnio
maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias, and oligohydramnios WENDY F. HANSEN Department of Obstetrics and Gynaecology, University of North Carolina at Chapel Hill, North Carolina, U.S.A Results. In the samples of uncultured amniocytes, interphase FISH detected 11.1% (13/117) mosaicism for trisomy 2, aCGH analysis showed the result of arr [hg19] 2p25.3q37.3 (0-242,936,883)×2.46, and QF-PCR excluded uniparental disomy 2 Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15‐year‐old girl Samuel Balbeur , 1 Bernard Grisart , 1 Benoit Parmentier , 1 Daniel Sartenaer , 1 Pierre‐Emmanuel Leonard , 1 Urielle Ullmann , 1 Sébastien Boulanger , 1 Luc Leroy , 2 Placide Ngendahayo , 2 Constantin Lungu.
The pregnancy outcome is strongly chromosome specific. The most frequently seen trisomic cells in confined placental mosaicism involve chromosomes 2, 3, 7, 8 and 16. The next frequently involved are 9, 13, 15, 18, 20 and 22. It has been observed that CPM involving the sex chromosomes usually has no adverse effects on fetal development The baby was investigated for uniparental disomy because trisomy 2 mosaicism had been detected in a second trimester amniocentesis. This is the first reported case in which amniotic fluid chromosome mosaicism has been associated with uniparental disomy. Implications for prenatal diagnosis are considered. 26 refs., 4 figs mosaic trisomy 2 at amniocentesis have been reported [1e3]. The prevalence of mosaic trisomy 2 in chorionic villus sam-pling is about one in 2000 samples [4e7]. The prevalence of mosaic trisomy 2 at amniocentesis is about one in 58,000 amniocenteses . Mosaic trisomy 2 may prenatally be associated with elevated maternal serum a-fetoprotein OSTI.GOV Journal Article: Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant Title: Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant Full Recor
trisomy X due to paternal isodisomy X. As expected for this constellation, we observed DNA methylation changes at all imprinted loci investigated. Conclusions: This report adds new information on phenotypic outcome of mosaic genome-wide maternal uniparental disomy leading to an extreme form of multilocus imprinting disturbance. Moreover, the. Trisomy 11 detected on amniocentesis. Hsu (1997) reported on 2 cases of trisomy 11 mosaicism detected on amniocentesis. Both resulted in a normal outcome. Trisomy 11 detected prenatally Uniparental Disomy (UPD 11) We report a case of paternal uniparental disomy for chromosome 11 that presented as severe intrauterine growth retardation (Webb et. CHROMOSOMAL MOSAICISM AND UNIPARENTAL DISOMY IN PRENATAL DIAGNOSIS: CLINICAL IMPLICATIONS FOR GENETIC COUNSELING by Amy Elizabeth Cox B.S., North Carolina State University, 2004 Submitted to the Graduate Faculty of The Graduate School of Public Health in partial fulfillment of the requirements for the degree of Master of Scienc Chromosome 14, Trisomy Mosaic is a rare chromosomal disorder in which chromosome 14 appears three times (trisomy) rather than twice in some cells of the body. The term mosaic indicates that some cells contain the extra chromosome 14, whereas others have the normal chromosomal pair Abstract. Of the various mechanisms of formation of uniparental disomy (UPD) discussed in the literature, the mechanism of trisomy rescue is mostly prone to mosaicism from a trisomy cell line and from a disomy 46, XN uniparental cell line
RESULTS: In the samples of uncultured amniocytes, interphase FISH detected 11.1% (13/117) mosaicism for trisomy 2, aCGH analysis showed the result of arr [hg19] 2p25.3q37.3 (0-242,936,883)×2.46, and QF-PCR excluded uniparental disomy 2. QF-PCR on placenta revealed trisomy 2 derived from maternal meiosis I non-disjunction In 1992, the first case of U PD associated with In 1980, Engel introduced the concept of uni- confined placental mosaicism (CPM ) was docu- parental disomy (U PD ), i.e., the presence of a mented; a patient with Prader-Willi syndrome, chromosome pair derived from one parent in a caused by maternal U PD for chromosome 15, was diploid offspring Blanco J, Gabau E, Gomez D, Baena N, Guitart M, Egozcue J, Vidal F: Chromosome 21 disomy in the spermatozoa of the fathers of children with trisomy 21, in a population with a high prevalence of Down syndrome: increased incidence in cases of paternal origin
The other 7 liveborns were reported to be normal. Mosaicism was confirmed in skin fibroblasts in 2 cases with 4 year follow-up. Trisomy 7 detected prenatally . Hsu (1997) reviewed six postnatal diagnoses of trisomy 7 mosaicism. Three of the cases were found to have kidney abnormalities. Uniparental Disomy (UPD 7 .
. This is called maternal uniparental disomy 16 (UPD 16 mat) and may intensify the growth delay before birth caused by the trisomy 16 cells Robinson WP, Barrett IJ, Bernard L, Telenius A, Bernasconi F, Wilson RD, Best RG, Howard-Peebles PN, Langlois S, Kalousek DK: Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblasts, and increased risk of fetal intrauterine growth restriction
Prenatal diagnosis of trisomy 7 in chorionic villi is most often secondary to confined placental mosaicism (CPM) without consequence on fetal intrauterine growth, as observed in other CPMs, 1,2 except when trisomy rescue leads to maternal uniparental disomy of chromosome 7 [UPD(7)m] in the fetus. 1,3, two maternal chromosomes 15, a condition called maternal uniparental disomy (UPD).' 2 Onemechanismleading to maternal UPDfor chromosome 15 (UPD15mat) is the rescue of a trisomic embryo,withtwomaternalchromo-somes 15, through the loss of the paternal chromosome 15. Several patients with PWS and mosaicism for trisomy 15 have been documented.37. Chromosome mosaicism is detected in about 1-2% of chorionic villi samples (CVS), and may be due to a postzygotic nondisjunction event generating a trisomic cell line in an initially normal conceptus (mitotic origin) or the postzygotic loss of one chromosome in an initially trisomic conceptus (meiotic origin and trisomy rescue) (1997) Maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth retardation, hypospadias, and oligohydramnios. Prenat Diagnosis 17: 443 - 450
. There are usually 46 chromosomes in a cell. In a person with mosaic trisomy 14, some cells have one extra chromosome (47 in all) or one extra part of a chromosome. Chromosome However, trisomy rescue occurs- pushing out one of the parent's chromosome. (*source= uniparental, disomy= 2 chromosomes) **effectively only one parent's set of chromosomes are expressed. Ex- Chromosome 15:-Maternal 2 chromosomes - Prader-Willi syndrome - Paternal 2 chromosomes present - Angelman Syndrom Autosomal trisomies and polyploidy 9/2. STUDY. (95% of the time in maternal meiosis MI); - 2% of patients are mosaic for a normal cell line and cell-line with. 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. Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are examples of disorders that can be caused by uniparental disomy
Outcome of pregnancies with trisomy 2 cells in chorionic villi trisomy 2 mosaicism and one full trisomy 2, detailed conceptus from either a maternal or. Maternal Germinal Trisomy 21 in Down Syndrome Maj A. Hultén 1, *, Linn Öijerstedt 2 , Erik Iwarsson 1,3 and Jon Jonasson 4 1 Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska Universit Chromosome analysis of primary in situ cultures showed a karyotype of 47,XX, + 21/46,XY/46,XX. Molecular testing demonstrated maternal cell contamination of the amniotic fluid sample and G-banded karyotyping of maternal blood showed that 3/200 cells had trisomy 21, consistent with the mother being a Down syndrome mosaic Birth of a child with trisomy 9 mosaicism syndrome associated with paternal isodisomy 9: case of a positive noninvasive prenatal test result unconfirmed by invasive prenatal diagnosis. Disomy 21 in spermatozoa and the paternal origin of trisomy 21 Down syndrome Disomy 21 in spermatozoa and the paternal origin of trisomy 21 Down syndrom the paternal allele dosage, indicating a maternal origin of the trisomy 2 cell line. The results of quantitative ﬂuorescent polymerase chain reaction excluded uniparental disomy (UPD) 2 in the fetus. The present case provides evidence for discrepant cytoge-netic ﬁndings of mosaic trisomy 2 between uncultured an
Prenatal diagnosis of mosaic trisomy 2 associated with abnormal maternal serum screening, oligohydramnios, intrauterine growth restriction, ventricular septal defect, preaxial polydactyly, and facial dysmorphism Prenatal and Postnatal Diagnostic Testing for Uniparental Disomy by mosaic trisomy of the same from a paternal deletion of 15q11.2-q13. Maternal UPD 15 also. Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture has been documented. The baby is reported to have had growth failure, hypothyroidism and acute respiratory distress in the neonatal period
such paternal uni parental disomy (UPD), Pallister Killian (PKS) showed non mosaic trisomy 22 in the chorionic villus, mosaic Chromosomal Foetal and Placenta. The first case of maternal UPD showed a mosaic karyotype with 46, XY and 47, XY, +mar, consisting of the centromere and pericentromeric segments for chromosome 20 . The second case was prenatally diagnosed as mosaic trisomy 20 and postnatally revealed as nonmosaic maternal UPD 20 Prader-Willi syndrome is caused by the loss of paternal gene expression on 15q11.2-q13.2, and one of the mechanisms resulting in Prader-Willi syndrome phenotype is maternal uniparental disomy of chromosome 15 Conclusion: Mosaic trisomy 9 carries a high risk of fetal abnormalities warranting detailed sonographic investigation of congenital malformations. Mosaic trisomy 9 can be associated with maternal uniparental disomy for chromosome 9 in euploid cell lines. Array comparative genomic hybridization is limited for the detection of low-level mosaicism
Mosaic trisomy 6 and maternal uniparental disomy 6 in a 23-week gestation fetus with atrioventricular septal defect Mosaic trisomy 6 and maternal uniparental disomy 6 in a 23-week gestation fetus with atrioventricular septal defec Edwards syndrome, also known as trisomy 18, is a genetic disorder caused by a third copy of all or part of chromosome 18. Many parts of the body are affected.  Babies are often born small and have heart defects . [2
BMC Medical Genetics BMC to analyse both a maternal and paternal differentially 16: the effect of uniparental disomy on the outcome of mosaic trisomy 16. Academic, New York, pp 261- 268 Webb AL, Sturgiss S, Warwicker P, Robson SC, Goodship JA, Wolstenholme J (1996) Maternal uniparental disomy for chromosome 2 in association with conﬁned placental mosaicism for trisomy 2 and severe intrauterine growth retardation Trisomy 6 was not detected in a follow-up amniocentesis. Analysis of DNA polymorphisms for chromosome 6 in amniocytes and parental samples showed markers which lacked an allele of obligate paternal origin. All loci were homozygous in the amniocytes, consistent with maternal uniparental isodisomy 6. DNA marker analysis confirmed paternity Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting. Annales de Génétique , Vol. 47, Issue. 3, p. 251
J. Clin. Med. 2014, 3 813 Figure 2. Uniparental disomy (UPD) formation after the rescue of a trisomic zygote: Trisomy rescue/anaphase lag mechanism can result in the formation of a UPD or Complete trisomy 2 usually results in first trimester pregnancy losses; trisomy 2 is not fatal only when present in a mosaic style. Cases of infants born live with trisomy 2 mosaicism previously described are characterized by intrauterine growth retardation and multiple congenital systemic anomalies [ 15 ] meiotic CPM have high levels of mosaicism or even 100% anueploidy. Figure 2 Principle of origin of fetal uniparental disomy during trisomic zygote rescue. Note that,in theory,a third of all cases of meiotic CPM develop this The first clinical case of UPD was reported in 1988 and involved a girl with cystic fibrosis and unusually short stature who carried two copies of maternal chromosome 7. Since 1991, out of the 47 possible disomies, 29 have been identified among individuals ascertained for medical reasons. This includes chromosomes 2, 5-11, 13-16, 21 and 22 A Child with Angelman Syndrome and Trisomy 13 Findings Due to Associated Paternal UPD 15 and Segmental UPD 13. Uniparental disomy of 13
Trisomy 15 mosaicism: Challenges in prenatal diagnosis. analysis revealed a low level mosaicism (2%) for trisomy 15. analysis revealed a maternal/paternal. Abstract. We have recently documented that trisomy 21 mosaicism is common in human foetal ovaries. On the basis of this observation we propose that the maternal age effect in Down syndrome (DS) is caused by the differential behaviour of trisomy 21 in relation to disomy 21 oocytes during development from foetal life until ovulation in adulthood By cytogenetic (conventional karyotyping), molecular cytogenetic (QF-PCR, FISH, array), and methylation (MS-MLPA) analyses of amniotic fluid, we detected mosaicism for one cell line with genome-wide maternal uniparental disomy and a second diploid cell line of biparental inheritance with trisomy X due to paternal isodisomy X Parental mosaicism, as well as Genetic predisposition should be considered in counselling families with sibships of regular trisomy-21. Al Awadi, Naguib, Bastaki, Gouda, Mohammed, Abulhasan, Al-Ateeqi, and Krishna Murthy. (1998) Down Syndrome in Kuwait: Recurrent Familial Trisomy 21 in Siblings It may represent up to 10% of all miscarriages and occurs in 1-2% of pregnancies. Maternal Uniparental Disomy (inheritance of two #16 chromosomes from the mother of the baby, and one from the father of the baby) has also been indicated as a cause for Trisomy 16. Maternal Uniparental Disomy appears to not be associated with developmental delay
.40 Mb to 105.63 Mb (13q31.1q33.2), and maternal hetero-disomy from 105.63 Mb (13q33.2) to telomere (online supple-mentary ﬁgure S2A). These ﬁndings suggested the origin of trisomy 13 in maternal meiosis I with two recombination sites at.40 Mb and 105.63 Mb, respectively, followed by chromo However, there were pregnancies reported in three phenotypically and developmentally normal females with mosaic trisomy 8 (2 x 2 Caspersson, T., Lindsten, J., Zech, L., Buckton, K.E., and Price, W.H. Four patients with trisomy 8 identified by the fluorescence and Giemsa banding techniques
Constitutional trisomy 8 mosaicism (CT8M) is a relatively rare chromosomal disorder with an estimated frequency of approximately 1/25,000 to 1/50,000 . However, since the phenotypes of individuals with CT8M vary quite extensively, ranging from severe malformations with impaired cognitive functioning to rather discrete dysmorphic changes [ 2. Medical Articles Below is a list of medical articles containing references to Mosaic Trisomy 16,Trisomy 16, Uniparental Disomy (UPD) and/or Confined Placental Mosaicism. Articles are listed in alphabetical order by author All seven tumors with trisomy 11 showed duplication of the paternal IGF2 allele, and six cellular or classical type tumors with disomy 11 showed one paternal and one maternal allele of IGF2, analyzing the methylation status of the sixth CTCF site of the H19-differentially methylated region . (2002) Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysis Hsu , Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: karyotype-phenotype correlations, Prenatal Diagnosis , 2000 , 20 , 2, 103.
Birth of a child with trisomy 9 mosaicism syndrome associated with paternal isodisomy 9: case of a positive noninvasive prenatal test result unconfirmed by invasive prenatal diagnosi The child's phenotype has elements of resemblance to children with mosaicism for trisomy 8 or trisomy 18 (Table 2). In fact, there are no known physical features in the patient, with the possible exception of poorly developed lower eyelashes, that has not been reported in patients with trisomy 8 or 18 mosaicism [11-13] For example, Patient 27 inherited one paternal (2.3 kb) and one maternal (approximately 1.2 kb) allele with the MS620 probe . Three patients with biparental inheritance (Patients 15, 27, and 28. Trisomy 14 mosaicism was detected in at least four published cases [10 x  Fokstuen, S., Ginsburg, C., Zachmann, M., and Schinzel, A. Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty