uniparental disomy

Summary

Summary: The presence in a cell of two paired chromosomes from the same parent, with no chromosome of that pair from the other parent. This chromosome composition stems from non-disjunction (NONDISJUNCTION, GENETIC) events during MEIOSIS. The disomy may be composed of both homologous chromosomes from one parent (heterodisomy) or a duplicate of one chromosome (isodisomy).

Top Publications

  1. Bruce S, Leinonen R, Lindgren C, Kivinen K, Dahlman Wright K, Lipsanen Nyman M, et al. Global analysis of uniparental disomy using high density genotyping arrays. J Med Genet. 2005;42:847-51 pubmed
    b>Uniparental disomy (UPD), the inheritance of both copies of a chromosome from a single parent, has been identified as the cause for congenital disorders such as Silver-Russell, Prader-Willi, and Angelman syndromes...
  2. Kalish J, Conlin L, Mostoufi Moab S, Wilkens A, Mulchandani S, Zelley K, et al. Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy. Am J Med Genet A. 2013;161A:993-1001 pubmed publisher
  3. Hoffmann K, Heller R. Uniparental disomies 7 and 14. Best Pract Res Clin Endocrinol Metab. 2011;25:77-100 pubmed publisher
    ..b>Uniparental disomy (UPD) describes the inheritance of both homologues of a chromosome pair from the same parent...
  4. Tuna M, Knuutila S, Mills G. Uniparental disomy in cancer. Trends Mol Med. 2009;15:120-8 pubmed publisher
    b>Uniparental disomy (UPD) results when both copies of a chromosome pair originate from one parent...
  5. Wilson M, Peters G, Bennetts B, McGillivray G, Wu Z, Poon C, et al. The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: two new reports. Am J Med Genet A. 2008;146A:137-48 pubmed
    Recently, mosaicism for genome-wide paternal uniparental disomy (patUPD), attributed to androgenetic/biparental mosaicism, has been shown to underlie placental mesenchymal dysplasia (PMD), a distinctive cystic placental phenotype...
  6. Fares F, David M, Lerner A, Diukman R, Lerer I, Abeliovich D, et al. Paternal isodisomy of chromosome 7 with cystic fibrosis and overgrowth. Am J Med Genet A. 2006;140:1785-8 pubmed
    ..The discrepancy between the phenotype of this boy and the other two patients raises the question of imprinted genes or homozygotization of a disease-causing gene in paternal UPD7...
  7. Suzuki S, Fujisawa D, Hashimoto K, Asano T, Maimaiti M, Matsuo K, et al. Partial paternal uniparental disomy of chromosome 6 in monozygotic twins with transient neonatal diabetes mellitus and macroglossia. Clin Genet. 2010;78:580-4 pubmed publisher
    ..These findings provide further evidence that partial paternal uniparental disomy of chromosome 6 (pUPD6) causes TNDM...
  8. Gondek L, Dunbar A, Szpurka H, McDevitt M, Maciejewski J. SNP array karyotyping allows for the detection of uniparental disomy and cryptic chromosomal abnormalities in MDS/MPD-U and MPD. PLoS ONE. 2007;2:e1225 pubmed
    ..MPD cases (N = 8), which served as a control group, those with a homozygous V617F mutation showed clear uniparental disomy (UPD) of 9p using SNP-A...
  9. Schönherr N, Meyer E, Binder G, Wollmann H, Eggermann T. No evidence for additional imprinting defects in Silver-Russell syndrome patients with maternal uniparental disomy 7 or 11p15 epimutation. J Pediatr Endocrinol Metab. 2007;20:1329-31 pubmed
    ..An additional 7-10% of patients with SRS have maternal uniparental disomy of chromosome 7 (mUPD7)...

More Information

Publications62

  1. Yamamoto G, Nannya Y, Kato M, Sanada M, Levine R, Kawamata N, et al. Highly sensitive method for genomewide detection of allelic composition in nonpaired, primary tumor specimens by use of affymetrix single-nucleotide-polymorphism genotyping microarrays. Am J Hum Genet. 2007;81:114-26 pubmed
    ..analysis using anonymous references), was demonstrated by detecting the copy-number neutral LOH, or uniparental disomy (UPD), in a large number of acute leukemia samples...
  2. Ogata T, Kagami M, Ferguson Smith A. Molecular mechanisms regulating phenotypic outcome in paternal and maternal uniparental disomy for chromosome 14. Epigenetics. 2008;3:181-7 pubmed
  3. Dunbar A, Gondek L, O Keefe C, Makishima H, Rataul M, Szpurka H, et al. 250K single nucleotide polymorphism array karyotyping identifies acquired uniparental disomy and homozygous mutations, including novel missense substitutions of c-Cbl, in myeloid malignancies. Cancer Res. 2008;68:10349-57 pubmed publisher
    Two types of acquired loss of heterozygosity are possible in cancer: deletions and copy-neutral uniparental disomy (UPD)...
  4. Nowak D, Le Toriellec E, Stern M, Kawamata N, Akagi T, Dyer M, et al. Molecular allelokaryotyping of T-cell prolymphocytic leukemia cells with high density single nucleotide polymorphism arrays identifies novel common genomic lesions and acquired uniparental disomy. Haematologica. 2009;94:518-27 pubmed publisher
  5. Grugni G, Giardino D, Crino A, Malvestiti F, Ballarati L, Di Giorgio G, et al. Growth hormone secretion among adult patients with Prader-Willi syndrome due to different genetic subtypes. J Endocrinol Invest. 2011;34:493-7 pubmed publisher
    Patients with Prader-Willi syndrome (PWS) due to maternal uniparental disomy of the chromosome 15 (UPD15) have fewer facial features, less hypopigmentation and higher levels of psychosis compared to subjects with deletion in chromosome 15 ..
  6. Wakeling E, Amero S, Alders M, Bliek J, Forsythe E, Kumar S, et al. Epigenotype-phenotype correlations in Silver-Russell syndrome. J Med Genet. 2010;47:760-8 pubmed publisher
    ..Maternal uniparental disomy (mUPD) of chromosome 7 and hypomethylation of the imprinting control region (ICR) 1 on chromosome 11p15 are ..
  7. Eggermann T. Russell-Silver syndrome. Am J Med Genet C Semin Med Genet. 2010;154C:355-64 pubmed publisher
    ..Up to 5% of patients carry a maternal uniparental disomy of chromosome 7 (UPD(7)mat), at least 44% show hypomethylation in the chromosome 11p15 imprinting center 1 (..
  8. Fitzgibbon J, Smith L, Raghavan M, Smith M, Debernardi S, Skoulakis S, et al. Association between acquired uniparental disomy and homozygous gene mutation in acute myeloid leukemias. Cancer Res. 2005;65:9152-4 pubmed
    ..analysis has revealed large-scale cryptic regions of acquired homozygosity in the form of segmental uniparental disomy in approximately 20% of acute myeloid leukemias...
  9. Yamazawa K, Nakabayashi K, Kagami M, Sato T, Saitoh S, Horikawa R, et al. Parthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype. J Med Genet. 2010;47:782-5 pubmed publisher
    ..We report a 34-year-old Japanese female with a Silver-Russell syndrome (SRS)-like phenotype and a mosaic Turner syndrome karyotype (45,X/46,XX)...
  10. Yamazawa K, Nakabayashi K, Matsuoka K, Masubara K, Hata K, Horikawa R, et al. Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd(14)pat-like phenotypes. J Hum Genet. 2011;56:91-3 pubmed publisher
    ..mosaicism in a 4-year-old Japanese girl with Beckwith-Wiedemann syndrome (BWS)-like and paternal uniparental disomy 14 (upd(14)pat)-like phenotypes...
  11. Kotzot D. Maternal uniparental disomy 7 and Silver-Russell syndrome - clinical update and comparison with other subgroups. Eur J Med Genet. 2008;51:444-51 pubmed publisher
    Maternal uniparental disomy (UPD) 7 is found in approximately 5% of patients with Silver-Russell syndrome...
  12. Makishima H, Maciejewski J. Pathogenesis and consequences of uniparental disomy in cancer. Clin Cancer Res. 2011;17:3913-23 pubmed publisher
    ..Random and recurrent patterns of copy-neutral loss of heterozygosity, also referred to as uniparental disomy, can be found in specific cancer types and probably contribute to clonal outgrowth owing to various ..
  13. Lapunzina P, Monk D. The consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer. Biol Cell. 2011;103:303-17 pubmed publisher
    UPD (uniparental disomy) describes the inheritance of a pair of chromosomes from only one parent. Mechanisms that lead to UPD include trisomy rescue, gamete complementation, monosomy rescue and somatic recombination...
  14. Yamazawa K, Kagami M, Ogawa M, Horikawa R, Ogata T. Placental hypoplasia in maternal uniparental disomy for chromosome 7. Am J Med Genet A. 2008;146A:514-6 pubmed publisher
  15. Dixit A, Chandler K, Lever M, Poole R, Bullman H, Mughal M, et al. Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q. J Clin Endocrinol Metab. 2013;98:E103-8 pubmed publisher
  16. Cooper W, Curley R, MacDonald F, Maher E. Mitotic recombination and uniparental disomy in Beckwith-Wiedemann syndrome. Genomics. 2007;89:613-7 pubmed
    ..5 imprinted gene cluster. Approximately 20% of BWS cases have uniparental disomy (UPD) of chromosome 11...
  17. Sanada M, Suzuki T, Shih L, Otsu M, Kato M, Yamazaki S, et al. Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasms. Nature. 2009;460:904-8 pubmed publisher
    Acquired uniparental disomy (aUPD) is a common feature of cancer genomes, leading to loss of heterozygosity...
  18. Varela M, Kok F, Setian N, Kim C, Koiffmann C. Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients. Clin Genet. 2005;67:47-52 pubmed
    Prader-Willi syndrome (PWS) can result from a 15q11-q13 paternal deletion, maternal uniparental disomy (UPD), or imprinting mutations...
  19. Milner K, Craig E, Thompson R, Veltman M, Thomas N, Roberts S, et al. Prader-Willi syndrome: intellectual abilities and behavioural features by genetic subtype. J Child Psychol Psychiatry. 2005;46:1089-96 pubmed
    ..To test this hypothesis we compared individuals with Prader-Willi syndrome (PWS) due to uniparental disomy (UPD--where paternally imprinted genes are over-expressed) to individuals with the 15q11-13 deletion form of ..
  20. Kagami M, Nishimura G, Okuyama T, Hayashidani M, Takeuchi T, Tanaka S, et al. Segmental and full paternal isodisomy for chromosome 14 in three patients: narrowing the critical region and implication for the clinical features. Am J Med Genet A. 2005;138A:127-32 pubmed
    ..Physical examination at birth showed various somatic features characteristic of paternal uniparental disomy for chromosome 14 (upd(14)pat) such as hairy forehead, protruding philtrum, micrognathia, small thorax, and ..
  21. Mitter D, Buiting K, von Eggeling F, Kuechler A, Liehr T, Mau Holzmann U, et al. Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR. Am J Med Genet A. 2006;140:2039-49 pubmed
    Maternal uniparental disomy for chromosome 14 [upd(14)mat] is associated with a characteristic phenotype including pre- and postnatal growth retardation, muscular hypotonia, feeding problems, motor delay, small hands and feet, precocious ..
  22. Sharp A, Migliavacca E, Dupre Y, Stathaki E, Sailani M, Baumer A, et al. Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15. Genome Res. 2010;20:1271-8 pubmed publisher
    ..In order to identify imprinted loci, we used a novel method, taking advantage of the fact that uniparental disomy (UPD) provides a system that allows the two parental chromosomes to be studied independently...
  23. O Shea D, O Riain C, Gupta M, Waters R, Yang Y, Wrench D, et al. Regions of acquired uniparental disomy at diagnosis of follicular lymphoma are associated with both overall survival and risk of transformation. Blood. 2009;113:2298-301 pubmed publisher
    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...
  24. Raghavan M, Smith L, Lillington D, Chaplin T, Kakkas I, Molloy G, et al. Segmental uniparental disomy is a commonly acquired genetic event in relapsed acute myeloid leukemia. Blood. 2008;112:814-21 pubmed publisher
    ..At diagnosis, acquisition of segmental uniparental disomy (UPD) by mitotic recombination has been reported in 15% to 20% of AML cases, associated with homozygous ..
  25. Gupta M, Raghavan M, Gale R, Chelala C, Allen C, Molloy G, et al. Novel regions of acquired uniparental disomy discovered in acute myeloid leukemia. Genes Chromosomes Cancer. 2008;47:729-39 pubmed publisher
    The acquisition of uniparental disomy (aUPD) in acute myeloid leukemia (AML) results in homozygosity for known gene mutations. Uncovering novel regions of aUPD has the potential to identify previously unknown mutational targets...
  26. Kagami M, Kato F, Matsubara K, Sato T, Nishimura G, Ogata T. Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype. Eur J Hum Genet. 2012;20:928-32 pubmed publisher
    Paternal uniparental disomy 14 (UPD(14)pat) results in a unique constellation of clinical features, and a similar phenotypic constellation is also caused by microdeletions involving the DLK1-MEG3 intergenic differentially methylated ..
  27. Richardson A, Wang Z, De Nicolo A, Lu X, Brown M, Miron A, et al. X chromosomal abnormalities in basal-like human breast cancer. Cancer Cell. 2006;9:121-32 pubmed
    ..Other, equally aneuploid, but non-BLC rarely displayed these X chromosome abnormalities. These results suggest that X chromosome abnormalities contribute to the pathogenesis of BLC, both inherited and sporadic...
  28. Fingert J, Eliason D, Phillips N, Lotery A, Sheffield V, Stone E. Case of Stargardt disease caused by uniparental isodisomy. Arch Ophthalmol. 2006;124:744-5 pubmed
  29. Hartley S, Maclean W, Butler M, Zarcone J, Thompson T. Maladaptive behaviors and risk factors among the genetic subtypes of Prader-Willi syndrome. Am J Med Genet A. 2005;136:140-5 pubmed
    ..Differences in maladaptive behaviors between the typical deletion and uniparental disomy (UPD) subtypes were evaluated...
  30. Aretz S, Raff R, Woelfle J, Zerres K, Esser M, Propping P, et al. Maternal uniparental disomy 14 in a 15-year-old boy with normal karyotype and no evidence of precocious puberty. Am J Med Genet A. 2005;135:336-8 pubmed
  31. Tuna M, Smid M, Zhu D, Martens J, Amos C. Association between acquired uniparental disomy and homozygous mutations and HER2/ER/PR status in breast cancer. PLoS ONE. 2010;5:e15094 pubmed publisher
    ..A novel form of abnormality called acquired uniparental disomy (aUPD) was recently found to pinpoint the region of mutated genes in various cancers, thereby identifying ..
  32. Melcher R, Al Taie O, Kudlich T, Hartmann E, Maisch S, Steinlein C, et al. SNP-Array genotyping and spectral karyotyping reveal uniparental disomy as early mutational event in MSS- and MSI-colorectal cancer cell lines. Cytogenet Genome Res. 2007;118:214-21 pubmed
    ..many monoallelic regions identified by SNP-array analysis display no copy number alterations, representing uniparental disomy (UPD)...
  33. Spengler S, Schönherr N, Binder G, Wollmann H, Fricke Otto S, Mühlenberg R, et al. Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome. J Med Genet. 2010;47:356-60 pubmed publisher
    ..a hypomethylation of the IGF2/H19 imprinting region in 11p15, whereas the additional 10% carry a maternal uniparental disomy of chromosome 7. In single cases, cytogenetic aberrations can be detected...
  34. Hahnemann J, Nir M, Friberg M, Engel U, Bugge M. Trisomy 10 mosaicism and maternal uniparental disomy 10 in a liveborn infant with severe congenital malformations. Am J Med Genet A. 2005;138A:150-4 pubmed
    ..The cytogenetic findings in the present patient demonstrate the importance of karyotyping more than one tissue, and not only lymphocytes, when a chromosomal aberration is strongly suspected...
  35. Kotzot D. Prenatal testing for uniparental disomy: indications and clinical relevance. Ultrasound Obstet Gynecol. 2008;31:100-5 pubmed
    This review aims to provide a rational and ethical basis for prenatal testing for uniparental disomy (UPD) in cases with abnormal ultrasound findings or numeric and/or structural chromosomal aberrations in chorionic villous or amniotic ..
  36. Liehr T, Ewers E, Hamid A, Kosyakova N, Voigt M, Weise A, et al. Small supernumerary marker chromosomes and uniparental disomy have a story to tell. J Histochem Cytochem. 2011;59:842-8 pubmed publisher
    Small supernumerary maker chromosomes (sSMC) and uniparental disomy (UPD) are rare, and a combination of both is rarely encountered. Accordingly, only 46 sSMC cases UPD have been reported...
  37. Abu Amero S, Monk D, Frost J, Preece M, Stanier P, Moore G. The genetic aetiology of Silver-Russell syndrome. J Med Genet. 2008;45:193-9 pubmed
    ..The mode of inheritance is variable with sporadic cases also being described. Maternal uniparental disomy (mUPD) of chromosome 7 accounts for 10% of SRS cases and many candidate imprinted genes on 7 have been ..
  38. Soni S, Whittington J, Holland A, Webb T, Maina E, Boer H, et al. The course and outcome of psychiatric illness in people with Prader-Willi syndrome: implications for management and treatment. J Intellect Disabil Res. 2007;51:32-42 pubmed
  39. Kotzot D. Growth parameters in maternal uniparental disomy 7 and 14. Eur J Pediatr. 2007;166:1143-9 pubmed
    Growth retardation has been reported in most cases of maternal uniparental disomy (UPD) 7 and 14, but has never been evaluated in a systematic approach...
  40. Sasaki K, Soejima H, Higashimoto K, Yatsuki H, Ohashi H, Yakabe S, et al. Japanese and North American/European patients with Beckwith-Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations. Eur J Hum Genet. 2007;15:1205-10 pubmed
    ..of causative alterations such as loss of methylation (LOM) of KvDMR1, hypermethylation of H19-DMR, paternal uniparental disomy, CDKN1C gene mutation, and chromosome abnormality have been described for North American and European ..
  41. Walsh C, Ogawa S, Scoles D, Miller C, Kawamata N, Narod S, et al. Genome-wide loss of heterozygosity and uniparental disomy in BRCA1/2-associated ovarian carcinomas. Clin Cancer Res. 2008;14:7645-51 pubmed publisher
    ..The importance of the BRCA gene products in maintaining genomic stability led us to hypothesize that BRCA-associated and sporadic ovarian cancers would have distinctive genetic profiles despite similarities in histologic appearance...
  42. Bea S, Salaverria I, Armengol L, Pinyol M, Fernandez V, Hartmann E, et al. Uniparental disomies, homozygous deletions, amplifications, and target genes in mantle cell lymphoma revealed by integrative high-resolution whole-genome profiling. Blood. 2009;113:3059-69 pubmed publisher
    ..This integrative genomic analysis has revealed target genes that may be potentially relevant in MCL pathogenesis...
  43. Fitzgibbon J, Iqbal S, Davies A, O Shea D, Carlotti E, Chaplin T, et al. Genome-wide detection of recurring sites of uniparental disomy in follicular and transformed follicular lymphoma. Leukemia. 2007;21:1514-20 pubmed
    ..A notable feature was the occurrence of recurring sites of acquired uniparental disomy (aUDP) on 6p, 9p, 12q and 17p in cell lines and primary samples...
  44. Kagami M, Sekita Y, Nishimura G, Irie M, Kato F, Okada M, et al. Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes. Nat Genet. 2008;40:237-42 pubmed publisher
    ..Consistent with this, paternal and maternal uniparental disomy for chromosome 14 (upd(14)pat and upd(14)mat) cause distinct phenotypes...
  45. Kratz C, Steinemann D, Niemeyer C, Schlegelberger B, Koscielniak E, Kontny U, et al. Uniparental disomy at chromosome 11p15.5 followed by HRAS mutations in embryonal rhabdomyosarcoma: lessons from Costello syndrome. Hum Mol Genet. 2007;16:374-9 pubmed
    ..5 imbalances in six sporadic ERMS samples. This analysis uncovered five ERMS samples with uniparental disomy (UPD) at the HRAS locus, two of which harbored HRAS mutations...
  46. Eggermann T, Schönherr N, Eggermann K, Buiting K, Ranke M, Wollmann H, et al. Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome. Clin Genet. 2008;73:79-84 pubmed
    ..two major (epi)mutations have been described: while approximately 10% of patients carry a maternal uniparental disomy of chromosome 7 (UPD7), 35-60% show a hypomethylation at the H19 differentially methylated regions (DMRs) in ..
  47. Engel E. A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements. Eur J Hum Genet. 2006;14:1158-69 pubmed
    With uniparental disomy (UPD), the presence in a diploid genome of a chromosome pair derived from one genitor carries two main types of developmental risk: the inheritance of a recessive trait or the occurrence of an imprinting disorder...
  48. Heinrichs S, Kulkarni R, Bueso Ramos C, Levine R, Loh M, Li C, et al. Accurate detection of uniparental disomy and microdeletions by SNP array analysis in myelodysplastic syndromes with normal cytogenetics. Leukemia. 2009;23:1605-13 pubmed publisher
    ..Further studies of larger numbers of patients will be needed to determine whether 7q UPD detected by SNP array analysis will identify higher risk MDS patients at diagnosis, analogous to those with 7q cytogenetic abnormalities...
  49. Romanelli V, Meneses H, Fernandez L, Martinez Glez V, Gracia Bouthelier R, F Fraga M, et al. Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques. Eur J Hum Genet. 2011;19:416-21 pubmed publisher
    ..One of the major categories of BWS molecular alteration (10-20% of cases) is represented by mosaic paternal uniparental disomy (pUPD), namely patients with two paternally derived copies of chromosome 11p15 and no maternal contribution ..
  50. Wiszniewski W, Lewis R, Lupski J. Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14. Hum Genet. 2007;121:433-9 pubmed
    ..that maps to chromosome 8 was detected in a patient with achromatopsia and systemic features associated with uniparental disomy (UPD) of chromosome 14. Two novel variants, p.R223G and p.A621E were found in CNGA3...
  51. Riveiro Alvarez R, Valverde D, Lorda Sanchez I, Trujillo Tiebas M, Cantalapiedra D, Vallespin E, et al. Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease. Mol Vis. 2007;13:96-101 pubmed
    ..Stargardt disease (STGD) is the most common juvenile macular dystrophy, characterized by central visual impairment. All recessively inherited cases are thought to be due to mutations in the ABCA4 gene, mapped to 1p21-p13...
  52. Losekoot M, Ruivenkamp C, Tholens A, Grimbergen J, Vijfhuizen L, Vermeer S, et al. Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy. J Med Genet. 2012;49:37-40 pubmed publisher
    ..This study reports for the first time a patient with neonatal onset of PKD homozygous for an incomplete penetrant PKD2 missense variant due to uniparental disomy.
  53. Temple I, Shrubb V, Lever M, Bullman H, Mackay D. Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14. J Med Genet. 2007;44:637-40 pubmed
    The clinical phenotypes of maternal and paternal uniparental disomy of chromosome 14 (UPD14) are attributed to dysregulation of imprinted genes...