Abnormal phenotypes in uniparental disomy (UPD): Fundamental aspects and a critical review with bibliography of UPD other than 15

American Journal of Medical Genetics

Volumn 82, Issue 3, 1999, Pages 265-274

  Kotzot, Dieter ^a  

^a UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

Genomic imprinting; Mosaicism; Uniparental disomy

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; GENE MUTATION; GENOME IMPRINTING; HOMOZYGOSITY; HUMAN; MOSAICISM; PHENOTYPE; PRIORITY JOURNAL; REVIEW; TRISOMY; UNIPARENTAL DISOMY;

CHROMOSOME ABERRATIONS; FAMILY HEALTH; GENOMIC IMPRINTING; HUMANS; MODELS, GENETIC; MOSAICISM; PHENOTYPE;

EID: 0033613977     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990129)82:3<265::AID-AJMG14>3.0.CO;2-6     Document Type: Review

References (166)

1. Barlow DP. 1995. Gametic imprinting in mammals. Science 270:1610-1613.
2. Bartolomei MS, Tilghman SM. 1997. Genomic imprinting in mammals. Annu Rev Genet 31:493-525.
3. Cassidy SB, Lai L-W, Erickson RP, Magnuson L, Thomas E, Gendron R, Herrmann J. 1992. Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy. Am J Hum Genet 51:701-708.
4. Cattanach BM, Jones J. 1994. Genetic imprinting in the mouse: implications for gene regulation. J Inher Metab Dis 17:403-420.
5. Engel E. 1980. A new genetic concept: uniparental disomy and its potential effect, isodisomy. Am J Med Genet 6:137-143.
6. James RS, Temple IK, Dennis NR, Crolla JA. 1994. A systematic search for uniparental disomy in carriers of chromosomal translocations. Eur J Hum Genet 2:83-95.
7. James RS, Temple IK, Dennis NR, Crolla JA. 1995. A search for uniparental disomy in carriers of supernumerary marker chromosomes. Eur J Hum Genet 3:21-26.
8. Kishino T, Lalande M, Wagstaff J. 1997. UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 15:70-73.
9. Kotzot D, Bundscherer G, Bernasconi F, Brecevic L, Lurie IW, Basaran S, Baccicchetti C, Höller A, Castellan C, Braun-Quentin C, Pfeiffer RA, Schinzel A. 1996. Isochromosome 18p results from maternal meiosis II nondisjunction. Eur J Hum Genet 4:168-174.
10. Malcolm S, Nicholls S, Clayton-Smith J, Robb S, Webb T, Armour JAL, Jeffreys AJ, Pembrey ME. 1990. Angelman syndrome can result from paternal uniparental isodisomy. Am J Hum Genet 47:A227.
11. Nicholls RD, Knoll JHM, Butler MG, Karam S, Lalande M. 1989. Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome. Nature 342:281-285.
12. Pangalos C, Avramopoulos, Blouin J-L, Raoul O, deBlois M-Ch, Prieur M, Schinzel AA, Gika M, Abazis D, Antonarakis SE. 1994. Understanding the mechanism(s) of mosaic trisomy 21 by using polymorphism analysis. Am J Hum Genet 54:473-481.
13. Robinson WP, Barrett IJ, Bernard L, Telenius A, Bernasconi F, Wilson RD, Best RG, Howard-Peebles PN, Langlois S, Kalousek DK. 1997. Meiotic origin of trisomy in confined placental mosaicism correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction. Am J Hum Genet 60:917-927.
14. Schinzel A. 1994. Human cytogenetics database. CD-ROM. Oxford Medical Databases Services. Oxford: Oxford University Press.
15. Shaffer LG, McCaskill Ch, Adkins K, Hassold TJ. 1998. Systematic search for uniparental disomy in early fetal loss: the results and a review of the literature. Am J Med Genet 79:366-372.
16. Smith MJ, Creasy MR, Clarke A, Upadhyaya M. 1998. Sex ratio and absence of uniparental disomy in spontaneous abortions with a normal karyotype. Clin Genet 53:258-261.
17. Field LL, Tobias R, Robinson WP, Paisey R, Bain S. 1998. Maternal uniparental disomy of chromosome 1 with no apparent phenotypic effects. Am J Hum Genet 63:1216-1220.
18. (Field LL, Tobias R, Robinson WP, Paisey R, Bain S. 1998. Chromosome 1 maternal uniparenatal disomy ascertained inadvertently during a linkage genome screen. Am J Hum Genet 63(suppl):751.)
19. Pulkkinen L, Bullrich F, Czarnecki P, Weiss L, Uitto J. 1997. Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa. Am J Hum Genet 61:611-619.
20. Gelb BD, Willner JP, Dunn TM, Kardon NB, Verloes A, Poncin J, Desnick RJ. 1998. Parenal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis. Am J Hum Genet 62:848-854.
21. (Gelb BD, Willner JP, Verloes A, Herens C, Desnick RJ. 1997. Mutation analysis of pycnodysostosis reveals uniparental disomy of chromosome 1. Am J Hum Genet 61(suppl): 203.)
22. Hansen WF, Bernhard LE, Langlois S, Rao KW, Chescheir NC, Aylsworth AS, Smith I, Robinson WP, Barrett IJ, Kalousek DK. 1997. Maternal uniparental disomy 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias, and oligohydramnios. Prenat Diagn 17:443-50.
23. (Bernard LE, Kalousek S, Langlois S, Barrett IJ, Hansen WF, Aylsworth AS, Smith DJ, Rao KW. 1995. Confined placental mosaicism for trisomy 2 with maternal uniparental disomy of chromosome 2. Am J Hum Genet 57(suppl):261.)
24. Shaffer LG, McCaskill Ch, Egli CA, Baker JC, Johnston KM. 1997. Is there an abnormal phenotype associated with maternal isodisomy for chromosome 2 in the presence of two isochromosomes? Am J Hum Genet 61:462-463.
25. (Johnston KM, Baker JC, Egli CA, McCaskill Ch, Shaffer LG. 1996. Maternal uniparental disomy of chromosome 2 in a child with growth retardation, hypospadias, and a cytogenetic abnormality. Am J Hum Genet 59(suppl):518.)
26. Bernasconi F, Karagüzel A, Celep F, Keser I, Lüleci G, Dutly F, Schinzel A. 1996. Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q). Am J Hum Genet 59:1114-1118.
27. Webb AL, Sturgiss S, Warwicker P, Robson SC, Goodship JA, Wolstenholm J. 1996. Maternal uniparental disomy for chromosome 2 in association with confined placental mosaicism for trisomy 2 and severe intrauterine growth retardation. Prenat Diagn 16:958-962.
28. (Webb AL, Sturgiss S, Robson SC, Goodship JA, Wolstenholm J. 1995. Severe growth retardation in association with trisomy 2 in placenta. Am J Hum Genet 57(suppl):1690.)
29. 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. Am J Med Genet 58:147-151.
30. (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. Am J Hum Genet 55(suppl 1):603.)
31. Betz A, Turleau C, de Grouchy J. 1974. Hétérozygotic et homozygotie pour un inversion péricentrique du 3 humain. Ann Génét 17:77-80.
32. Lindenbaum RH, Woods CG, Norbury CG, Povey S, Rystecki G. 1991. An individual with maternal disomy of chromosome 4 and iso (4p), iso (4q). Am J Hum Genet 49(suppl):1582.
33. Carpenter NJ, Say B, Barber ND. 1982. A homozygote for pericentric inversion of chromosome 4. J Med Genet 19:469-471.
34. Brzustowicz LM, Allitto BA, Matseoane D, Theve R, Michaud L, Chatkupt S, Sugarman E, Penchaszadeh GK, Suslak L, Koenigsberger MR, Gilliam TC, Handelin BL. 1994. Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy. Am J Hum Genet 54:482-488.
35. Van den Berg-Loonen EM, Savelkoul P, van Hooff H, van Eede P, Riesewijk A Geraedts J. 1996. Uniparental maternal disomy 6 in a renal transplant patient. Hum Immunol 45:46-51.
36. Palmer SE, Christian SL, Danney MM, Odom MW, Ledbetter DH. 1998. Neonatal diabetes mellitus due to uniparental disomy of chromosome 6. Am J Hum Genet 63(suppl):644).
37. Bittencourt MC, Morris MA, Chabod J, Gos A, Lamy B, Fellmann F, Antonarakis SE, Plouvier E, Herve P, Tiberghien P. 1997. Fortuitous detection of uniparental isodisomy of chromosome 6. J Med Genet 34:77-78.
38. Israel J, Vasa R, Loebl C, Ledbetter D, Christian S. 1997. A unique case of uniparental disomy of chromosome 6 and neonatal diabetes and macroglossia. Am J Hum Genet 61(suppl):269.
39. Hermann R, Solteész G. 1997. Paternal uniparental isodisomy of chromosome 6 in transient neonatal diabetes mellitus. Eur J Pediatr 156:740.
40. Shield JPH, Gardner RJ, Wadsworth EJK, Whiteford ML, James RS, Robinson DO, Baum JD, Temple IK. 1997. Aetiopathology and genetic basis of neonatal diabetes. Arch Dis Child 76:F39-F42.
41. Whiteford ML, Narendra A, White MP, Cooke A, Wilkinson AG, Robertson KJ, Tolmie JL. 1997. Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetes. J Med Genet 34:167-168.
42. Abramowicz MJ, Andrien M, Dupont E, Dorchy H, Parma J, Duprez L, Ledley FD, Courtens W, Vamos E. 1994. Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus. J Clin Invest 94:418-421.
43. Temple IK, James RS, Crolla JA, Sitch FL, Jacobs PA Howell WM, Betts P. 1994. An imprinted gene(s) for diabetes? Nature Genet 9:110-112.
44. (James RS, Crolla JA, Temple IK, Sitch FL, Dennis NR. 1994. Paternal isodisomy of chromosome 6 in association with a maternal supernumerary marker chromosome (6). Am J Hum Genet 55(suppl):610.)
45. Welch TR, Beischel LS, Choi E, Balakrishnan K, Bishop NA. 1990. Uniparental isodisomy 6 associated with deficiency of the fourth component of complement. J Clin Invest 86:675-678.
46. Cogliati F, Russo S, Macchi M, Selicorni A, Bedeschi MF, Natacci F, Parini R, Larizza L. 1998. Uniparental disomy and PEG1/MEST gene in Silver-Russell syndrome. Eur J Hum Genet 6(suppl 1):P4.217.
47. Cuisset L, Le Stunff C, Dupont JM, Vasseur Ch, Cartigny M, Despert F, Delpech M, Bougnére P, Jeanpierre M. 1998. PEG1 expression in maternal uniparental disomy 7. Ann Génét 40:211-215.
48. (Dupont JM, Cuisset L, Le Tessier D, Vasseur C, Récan D, Cartigny M, Despert F, Bougnére P, Jeanpierre M, Rabineau D. 1998. Cytogenetic and molecular studies in 32 Silver Russell syndrome patients (SRS). Eur J Hum Genet 6(suppl 1):P2.113.)
49. Eggermann T, Wollmann HA, Kuner R, Eggermann K, Enders H, Kaiser P, Ranke MB. 1997. Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy. Hum Genet 100: 415-419.
50. Kuner R, Eggermann T, Eggermann K, Mergenthaler S, Enders H, Kaiser P, Ranke MB, Wollmann HA. 1997. Three cases of maternal uniparental disomy in 37 patients with Silver-Russell syndrome. Med Genetik 9:1:109:P10-49.)
51. Preece MA, Price SM, Davies V, Clough L, Stanier P, Trembath RC, Moore GE. 1997. Maternal uniparental disomy 7 in Silver-Russell syndrome. J Med Genet 34:6-9.
52. Shuman C, Weksberg R, Nedelcu R, Northey A, Scherer S. 1996. Chromosome 7 uniparental disomy in Silver-Russell syndrome. Am J Hum Genet 59(suppl):1648.
53. Tariverdian G, Voigtländer T, Emmerich D, Bernasconi F, Schinzel A. 1996. Uniparental disomy 7 in Silver-Russell syndrome. Med Genetik 8:1:73:W9-25.
54. Kotzot D, Schmitt S, Bernasconi F, Robinson WP, Lurie IW, Ilyina H, Mehes K, Hamel BCJ, Otten BJ, Hergersberg M, Werder E, Schönle E, Schinzel A. 1995. Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Hum Mol Genet 4:583-587.
55. (Kotzot D, Robinson WP, Lurie JW, Schinzel AA. 1994. Uniparental disomy 7 in two out of 23 patients with Silver-Russell-like phenotype. Genet Counsel 6:81.)
56. Langlois S, Yong SL, Wilson RD, Kwong LC, Kalousek DK. 1995. Prenatal and postnatal failure associated with maternal heterodisomy for chromosome 7. J Med Genet 32:871-875.
57. (Kalousek KL, Langlois S, Robinson WP, Telenius A, Bernard L, Barrett IJ, Howard-Peebles PN, Wilson RD. 1996. Trisomy 7 CVS mosaicism: pregnancy outcome, placental and DNA analysis in 14 cases. Am J Med Genet 65:348-352.)
58. Spotila LD, Sereda L, Prockop DJ. 1992. Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus. Am J Hum Genet 51:1396-1405.
59. Voss R, Ben-Simon E, Avital A, Godrey S, Zlotogora J, Dagan J, Tikochinski Y, Hillel J. 1989. Isodisomy for chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans? Am J Hum Genet 45:373-380.
60. Spence JE, Perciaccante RG, Greig GM, Huntington FW, Ledbetter DH, Hejtmancik JF, Pollack MS, O'Brien WE, Beaudet AL. 1988. Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet 42:217-226.
61. Pan Y, McCaskill ChD, Thompson KH, Hicks J, Casey B, Shaffer LG, Craigen WJ. 1998. Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia. Am J Hum Genet 62:1551-1555.
62. (Pan Y, McCaskill ChD, Harrisom GM, Hicks J, Casey B, Shaffer LG, Craigen WJ. 1996. Paternal uniparental disomy of chromosome 7 associated with complete situs inversus and immotile cilia. Am J Hum Genet 59(suppl):547.)
63. Höglund P, Holmberg Ch, de la Chapelle A, Kere J. 1994. Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea. Am J Hum Genet 55:747-752.
64. Turleau C, Viot G, Burglen L, Caillez D, Layet V, Chauveau P, Faivre L, Morichon N, Delezoide A-L, Prieur M, Munnich A, Vekemans M. 1998. Uniparental disomy of chromosome 8 due to a pseudodicentric chromosome: possible mechanisms and consequences. Am J Hum Genet 63(suppl):865.
65. Piantanida M, Dellavecchia C, Floridia G, Giglio S, Hoeller H, Dordi B, Danesino C, Schinzel A, Zuffardi O. 1997. Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes? Hum Genet 99:766-771.
66. Benlian P, Foubert L, Gagné E, Bernard L, De Gennes JL, Langlois S, Robinson WP, Hayden M. 1996. Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency. Am J Hum Genet 59:431-436.
67. Sulisalo T, Mäkitie O, Sistonen P, Ridanpää M, El-Rifai W, Ruuskanen O, de la Chapelle A, Kaitila I. 1997. Uniparental disomy in cartilago-hair hypoplasia Eur J Hum Genet 5:35-42.
68. (Sulisalo T, de la Chapelle A, Kaitila I. 1994. Uniparental disomy as an explanation of presumptive low penetrance. Am J Hum Genet 55(suppl):27.)
69. Wilkinson TA, James RS, Crolla JA, Cockwell AE, Campbell PL, Temple IK. 1996. A case of maternal uniparental disomy of chromosome 9 in association with confined placental mosaicism for trisomy 9. Prenat Diagn 16:371-374.
70. Willatt IR, Davison BCC, Goudie D, Alexander J, Dyson HM, Jenks PE. Ferguson-Smith ME. 1992. A male with trisomy 9 mosaicism and maternal uniparental disomy for chromosome 9 in the euploid cell line. J Med Genet 29:742-744.
71. Jones C, Booth C, Rita D, Jazmines L, Spiro R, Mc Culloch B, Mc Caskill Ch, Shaffer LG. 1995. Identification of a case of maternal disomy of chromosome 10 associated with confined placental mosaicism. Prenat Diagn 15:843-848.
72. (Shaffer LG, Booth C, Rita D, Jazmines L, Spiro R, McCullough B, McCaskill C, Jones C. 1995. Identification of a case of maternal uniparental disomy for chromosome 10 associated with confined placental mosaicism and normal outcome. Am J Hum Genet 57(suppl):1675.)
73. Kousseff BG, Gallardo LA, Mueller OT. 1992. Unusual clinical presentation associated with uniparental disomy of chromosome 10 in a child presymptomatic for multiple endocrine neoplasia type 2A. Am J Hum Genet 51(suppl):863.
74. Dutly F, Baumer A, Kayserili H, Yüksel-Apak M, Zerova T, Schinzel A. 1998. Seven cases of Wiedemann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11. Am J Med Genet 79:347-353.
75. Webb A, Beard J, Wright C, Robson S, Wolstenholme J, Goodship J. 1995. A case of paternal uniparental disomy for chromosome 11. Prenat Diagn 15:773-777.
76. Stallard R, Krueger S, James RS, Schwartz S. 1995. Uniparental isodisomy 13 in a normal female due to transmission of a maternal t(13q13q). Am J Med Genet 57:14-18.
77. (Stallard R, Krueger S, Schwartz S. 1993. Uniparental disomy (UPD) in a normal female due to transmission of a maternal t(13q;13q). Am J Hum Genet 53(suppl):256.)
78. Slater H, Shaw JH, Dawson G, Bankier A, Forrest SM. 1994. Maternal uniparental disommy of chromosome 13 in a phenotypically normal child. J Med Genet 31:644-646.
79. Von Koskull H, Savukoski M, Ämmälä P, Järvelä I. 1997. Prenatally detected paternal chromosome 13 isodisomy. Med Genetik 9:2:268: P2.038.
80. Slater H, Shaw JH, Bankier A, Forrest SM. 1995. UPD 13: no indication of maternal or paternal imprinting of genes on chromosome 13. J Med Genet 33:493.
81. Harrison KJ, Allingham-Hawkins DJ, Hummel J, Meschino WS, Cox DW, Costa TM, Mak-Tam E, Teshina IF, Kamel-Reid S, Winsor EJT. 1998. Risk of uniparental disomy in Robertsonian translocation carriers: identification of UPD 14 in a small cohort. Am J Hum Genet 63(suppl): 51.
82. Ginsburg C, Fokstuen S, Schinzel A. 1998. The contribution of uniparental disomy to congenital developmental defects in children born to "old" mothers. Eur J Hum Genet 6(suppl 1):P4.130.
83. (Ginsburg C, Fokstuen S, Schinzel A. 1998. The contribution of uniparental disomy to congenital developmental defects in children born to "old" mothers. Med Genetik 10:2:168:P6B-6.
84. Schinzel A, Ginsburg C, Fokstuen S. 1998. The contribution of uniparental disomy to developmental defects in offspring of "old" mothers. Genet Counsel 9:87.)
85. Miyoshi O, Hayashi S, Fujimoto M, Tomita H, Sohda M, Niikawa N. 1998. Maternal uniparental disomy for chromosome 14 in a boy with intrauterine growth retardation. J Hum Genet 43:138-142.
86. Desilets VA, Yong SL, Kalousek DK, Pantzar TJ, Kwong LC, Siemens C, Langlois S. 1997. Maternal uniparental disomy for chromosome 14. Am J Hum Genet 61(suppl):691.
87. Splitt MP, Goodship JA. 1997. Another case of maternal uniparental disomy chromosome 14 syndrome. Am J Med Genet 72:239-240.
88. Walgenbach DD, Yang SP, McCaskill C, Shaffer LG, Towner DR. 1997. Maternal uniparental disomy of chromosome 14 in an infant with mild dysmorphology and confined placental mosaicism. Am J Hum Genet 61(suppl):2222.
89. Barton DE, McQuaid S, Stallings R, Griffin E, Geraghty M. 1996. Further evidence for an emerging maternal uniparental disomy chromosome 14 syndrome: analysis of a phenotypically abnormal de novo Robertsonian translocation t(13;14) carrier. Am J Hum Genet 59(suppl):687.
90. Coviello DA, Panucci E, Mantero MM, Perfumo C, Guelfi M, Borronco C, Dagna-Bricarelli F. 1996. Maternal uniparental disomy for chromosome 14. Acta Genet Gemellol 45(1-2):169-172.
91. (Coviello DA, Panucci E, Mantero MM, Perfumo C, Guelfi M, Borronco C, Dagna-Bricarelli F. 1995). Maternal uniparental disomy for chromosome 14. Am J Hum Genet 57(suppl):617.)
92. Link L, McMilin K, Popovich B, Magenis RE. 1996. Maternal uniparental disomy for chromosome 14. Am J Hum Genet 59(suppl):687.
93. Papenhausen PR, Müller OT, Johnson VP, Sutcliffe M, Diamond ThM, Kousseff BG. 1995. Uniparental isodisomy of chromosome 14 in two cases: An abnormal child and a normal adult. Am J Med Genet 59:271-275.
94. (Diamond TM, Möller OM, Sutcliffe M, Papenhausen PR, Tedesco TA, Kousseff BG. 1993. Uniparental disomy for chromosome 14 - evidence for an imprinting effect. Am J Hum Genet 51(suppl):541.
95. Robinson WP, Langlois S. 1996. Phenotype of maternal UPD(14). Am J Med Genet 66:89. [Letter])
96. Healey S, Powell F, Battersby M, Chenevix-Trench G, McGill J. 1994. Distinct phenotype in maternal uniparental disomy of chromosome 14. Am J Med Genet 51:147-149.
97. Morichon-Delvallez N, Segues B, Pinson MP, Bérubé D, Dommergues M, Aubry MC, Cessot F, Lyonnet S, Munnich A, Vekemans M. 1994. Maternal uniparental disomy for chromosome 14 by secondary nondisjunction of a initial trisomy. Am J Hum Genet 55(suppl):2224.
98. Robinson WP, Bernasconi F, Basaran S, Yüksel-Apak M, Neri G, Serville F, Balicek P, Haluza R, Farah LMS, Lüleci G, Schinzel A. 1994. A somatic origin of homologous Robertsonian translocations and isochromosomes. Am J Hum Genet 54:290-302.
99. Sirchia SM, De Andreis Ch, Pariani S, Grimoldi MG, Molinari A, Buscaglia M, Simoni G. 1994. Chromosome 14 maternal uniparental disomy in the euploid cell line of a fetus with mosaic 46,XX/47,XX,+14 karyotype. Hum Genet 94:355-358.
100. Tomkins DJ, Waye JS, Whelan DT, Cox DW. 1994. Maternal uniparental disomy of chromosome 14 in a boy with t(14q14q) associated with a paternal t(13q14q). Am J Hum Genet 55(suppl):685.
101. Antonarakis SE, Blouin J-L, Maher J, Avramopoulos D, Thomas G, Talbot CC. 1993. Maternal uniparental disomy for human chromosome 14, due to a loss of a chromosome 14 from somatic cells with t(13/14) trisomy 14. Am J Hum Genet 52:1145-1152.
102. Pentao L, Lewis RA, Ledbetter DH, Patel PI, Lupski JR. 1992. Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy. Am J Hum Genet 50:690-699.
103. Temple IK, Cockwell A, Hassold T, Pettay D, Jacobs P. 1991. Maternal uniparental disomy for chromosome 14. J Med Genet 28:511-514.
104. Cotter PhD, Kaffe S, Curdy LD, Jhaveri M, Willner JP, Hirschhorn K. 1997. Paternal uniparental disomy for chromosome 14: a case report and review. Am J Med Genet 70:74-79.
105. Walter ChA, Shaffer LG, Kaye CI, Huff RW, Ghidoni PD, McCaskill Ch, McFarland MB, Moore ChM. 1996. Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45,XY,idic(14)(p11). Am J Med Genet 65:259-265.
106. Papenhausen PR, Müller OT, Johnson VP, Sutcliffe M, Diamond ThM, Kousseff BG. 1995. Uniparental isodisomy of chromosome 14 in two cases: an abnormal child and a normal adult. Am J Med Genet 59:271-275.
107. (Diamond TM, Möller OM, Sutcliffe M, Papenhausen PR, Tedesco TA, Kousseff BG. 1993. Uniparental disomy for chromosome 14 - evidence for an imprinting effect. Am J Hum Genet 51(suppl):541.)
108. Wang J-C, Passage MB, Yen PH, Shapiro LJ, Mohandas TK. 1991. Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier. Am J Hum Genet 48:1069-1074.
109. Los FJ, van Opstal D, van den Berg C, Braat APG, Verhoef S, Wesby-van Swaay E, van den Ouweland AMW, Halley DJJ. 1998. Uniparental disomy with and without confined placental mosaicism: a model for trisomic zygote rescue. Prenat Diagn 18:659-668.
110. Sanz R, Rodriguez de Alba M, Ayuso C, Fernandez-Moya JM; Barroso A, Robledo M, Benitez J, Diaz-Recasens J, Ramos C. 1998. Maternal uniparental disomy 16 without phenotypic repercussion. Eur J Hum Genet 6(suppl 1):P2.053.
111. Van Opstal D, van den Berg C, Deelen WH, Brandenburg H, Cohen-Overbeek TE, Halley DJJ, van den Ouweland AMW, In't Veld PA, Los FJ. 1998. Prospective prenatal investigations on potential uniparental disomy in cases of confined placental trisomy. Prenat Diagn 18:35-44.
112. Kou S-Y, Mao R, Schmidt J, Habibian R, Hsu W-T. 1997. Centromeric DNA break in a 10;16 whole arm translocation associated with trisomy 16 confined placental mosaicism and maternal uniparental disomy for chromosome 16. Am J Hum Genet 61(suppl):811.
113. Moore GE, Ali Z, Khan RU, Blunt S, Bennett PhR, Vaughan JI. 1997. The incidence of uniparental disomy associated with intrauterine growth retardation in a cohort of thirty-five severely affected babyies. Am J Obstet Gynecol 176:294-299
114. (Vaughan J, Ali Z, Bower S, Bennett P, Chard P, Moore G. 1994. Human maternal uniparental disomy for chromosome 16 and fetal development. Prenat Diagn 14:751-756.)
115. Robinson WP, Barrett IJ, Bernard L, Telenius A, Bernasconi F, Wilson RD, Best RG, Howard-Peebles PN, Langlois S, Kalousek DK. 1997. Meiotic origin of trisomy in confined placental mosaicism correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction. Am J Hum Genet 60:917-927.
116. Schinzel A, Kotzot D, Brecevic L, Robinson WP, Dutly F, Dauwerse H, Binkert F, Ausserer B. 1997. Trisomy first, translocation second, uniparental disomy and partial trisomy third: a new mechanism for complex chromosomal aneuploidy. Eur J Hum Genet 5:308-314.
117. (Ginsburg C, Fokstuen S, Schinzel A. 1998. The contribution of uniparental disomy to congenital developmental defects in children born to "old" mothers. Eur J Hum Genet 6(suppl 1):P4.130.
118. Ginsburg C, Fokstuen S, Schinzel A. 1998. The contribution of uniparental disomy to congenital developmental defects in children born to "old" mothers. Med Genetik 10:168:P6B-6.
119. Schinzel A, Ginsburg C, Fokstuen S. 1998. The contribution of uniparental disomy to developmental defects in offspring of "old" mothers. Genet Counsel 9:87.
120. Brecevic L, Kotzot D, Binkert F, Robinson W, Dutly F, Ausserer B, Schinzel A. 1997. Mosaicism between maternal heterodisomy 16 and maternal heterodisomy 16p13→qter combined with trisomy 16pter→p13 associated with mental retardation and multiple anomalies. Cytogenet Cell Genet 77:103.
121. Schinzel A, Kotzot D, Brecevic L. 1995. An unusual consequence of maternal uniparental disomy 16. Genet Counsel 7:87.)
122. Woo V, Bridge PJ, Bamforth JS. 1997. Maternal uniparental heterodisomy for chromosome 16: case report. Am J Med Genet 70:387-390.
123. Exeler R, Dworniczak B, Tercanli S, Holzgreve W, Horst J Trowitzsch E, Miny P. 1996. Physical and psychomotor development of three children with uniparental disomy 16. Am J Hum Genet 59(suppl):497.
124. (Dworniczak B, Koppers B, Bogdanova N, Exeler R, Tercanli S, Holzgreve W, Horst J, Miny P. 1994. Clinical follow up of uniparental disomy 16: first data. Am J Hum Genet 55(suppl):28.
125. Dworniczak B, Koppers B, Kurlemann G, Holzgreve W, Horst J, Miny P. 1992. uniparental disomy with normal phenotype. Lancet 344:1285-1286.
126. Dworniczak B, Koppers B, Kurlemann G, Holzgreve W, Horst J, Miny P. 1992. Maternal origin of both chromosomes 16 in a phenotypically normal newborn. Am J Hum Genet 51(suppl):32.)
127. O'Riordan S, Greenough A, Moore GE, Bennett P, Nicolaides KH. 1996. Case report: uniparental disomy 16 in association with congenital heart disease. Prenat Diagn 16:963-965.
128. Schneider AS, Bischoff FZ, McCaskill Ch, Coady ML, Stopfer JE, Shaffer LG. 1996. Comprehensive 4-year follow-up on a case of maternal heterodisomy for chromosome 16. Am J Med Genet 66:204-208.
129. Whiteford ML, Coutts J, Al-Roomi L, Mather A, Lowther G, Cooke A, Vaughan JI, Moore GE, Tolme JL. 1995. Uniparental isodisomy for chromosome 16 in a growth-retarded infant with. Prenat Diagn 15: 579-584.
130. Garber A, Carlson D, Schreck R, Fischel-Ghodsian N, Hsu W-T, Oetztas S, Pepkowitz S, Graham JM. 1994. Prenatal diagnosis and dysmorphic findings in mosaic trisomy 16. Prenat Diagn 14:257-268.
131. (Hsu W-T, Zhang J-G, Kravis E, Garber A, Fischel-Ghodsian N. 1996). Mosaic trisomy 16 in amniocentesis. Am J Hum Genet 59(suppl):1878.)
132. Korenstein A, Ravia Y, Avivi L. 1994. Uniparental disomy of chromosome 16 in offsprings of Familial Mediterranean Fever (FMF) patients treated with colchicin. Am J Hum Genet 55(suppl):616.
133. Kalousek DK, Langlois S, Barrett I, Yam I, Wilson DR, Howard-Peebles PN, Johnson MP, Giorgiutti E. 1993. Uniparental disomy for chromosome 16 in humans. Am J Hum Genet 52:8-16.
134. (Langlois S, Barrett I, Yam I, Wilson RD, Howard-Peebles PN, Johnson MP, Giorgiutti E, Kalousek DK. 1992. Fetal uniparental disomy for chromosome 16 in pregnancies with confined placental mosaicism. Am J Hum Genet 51(suppl):62.)
135. Lindor NM, Jalal SM, Thibodeau SN, Bonde D, Sauser KL, Karnes PS. 1993. Mosaic trisomy 16 in a thriving infant; maternal heterodisomy for chromosome 16. Clin Genet 44:185-189.
136. Sutcliffe MJ, Mueller OT, Gallardo LA, Papenhausen PR, Tedesco TA. 1993. Maternal isodisomy 16 in a normal 46,XX following trisomic conception. Am J Hum Genet 53(suppl):1464.
137. Ngo KY, Lee J, Dixon B, Liu D, Jones OW. 1993. Paternal uniparental isodisomy in a hydrops fetalis alpha-thalassemia fetus. Am J Hum Genet 53(suppl):1207.
138. Chudoba I, Franke Y, Senger G, Sauerbrei G, Demuth S, Beensen V, Rubtsov N, Junker K, Neumann A, Hansmann I, Claussen U. 1997. Maternal uniparental disomy for chromosome 20 in a hyperactive growth retarded child. In preparation and cited in Med Genetik 9:1: 150.
139. Spinner NB, Rand E, Bucan M, Jirik E, Gogolin-Ewens C, Riethman HC, McDonald-McGinn DM, Zackai EH. 1994. Paternal uniparental isodisomy for human chromosome 20 and absence of external ears. Am J Hum Genet 55(suppl):674.
140. Bartsch O, Petersen MB, Stuhlmann I, Mau G, Frantzen M, Schwinger E, Antonarakis SE, Mikkelsen M. 1994. Compensatory uniparental disomy of chromosome 21 in two cases. J Med Genet 31:534-540.
141. (Petersen MB, Bartsch O, Adelsberger PA, Mikkelsen M, Schwinger E, Antonarakis SE. 1992. Uniparental isodisomy due to duplication of chromosome 21 occurring in somatic cells monosomic for chromosome 21. Genomics 13:269-274.)
142. Henderson DJ, Sherman LS, Loughna SC, Bennett PR, Moore GE. 1994. Early embryonic failure associated with uniparental disomy for human chromosome 21. Hum Mol Genet 3:1373-1376.
143. Créau-Goldberg N, Gegonne A, Delabar J, Cochet C, Cabanis M-O, Stehlin D, Turleau C, de Grouchy J. 1987. Maternal origin of a de novo balanced t(21q;21q) identified by ets-2 polymorphism. Hum Genet 76:396-398.
144. Bartsch O, Petersen MB, Stuhlmann I, Mau G, Frantzen M, Schwinger E, Antonarakis SE, Mikkelsen M. 1994. Compensatory uniparental disomy of chromosome 21 in two cases. J Med Genet 31:534-540.
145. (Petersen MB, Bartsch O, Adelsberger PA, Mikkelsen M, Schwinger E, Antonarakis SE. 1992. Uniparental isodisomy due to duplication of chromosome 21 occurring in somatic cells monosomic for chromosome 21. Genomics 13:269-274.)
146. Robinson WP, Bernasconi F, Basaran S, Yüksel-Apak M, Neri G, Serville F, Balicek P, Haluza R, Farah LMS, Lüleci G, Schinzel A. 1994. A somatic origin of homologous Robertsonian translocations and isochromosomes. Am J Hum Genet 54:290-302.
147. Blouin JL, Avramopoulos D, Pangalos C, Antonarakis SE. 1993. Normal phenotype with paternal uniparental isodisomy for chromosome 21. Am J Hum Genet 53:1074-1078.
148. (Blouin JL, Avramopoulos D, Pangalos C, Antonarakis SE. 1993. Normal phenotype with paternal uniparental isodisomy for chromosome 21. Am J Hum Genet 53(suppl):1129.)
149. De Pater JM, Schuring-Blom GH, van den Bogaard R, van der Sijs-Bos CJM, Christiaens GCML, Stoutenbeek Ph, Leschot NJ. 1997. Maternal uniparental disomy for chromosome 22 in a child with generalized mosaicism for trisomy 22. Prenat Diag 17:81-86.
150. Robinson WP, Barrett IJ, Bernard L, Telenius A, Bernasconi F, Wilson RD, Best RG, Howard-Peebles PN, Langlois S, Kalousek DK. 1997. Meiotic origin of trisomy in confined placental mosaicism correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction. Am J Hum Genet 60:917-927.
151. Dawson AJ, Mears AJ, Chudley AE, Bech-Hansen T, McDermid H. 1996. Der(22)t(11;22) resulting from paternal de novo translocation, adjacent 1 segregation, and maternal heterodisomy of chromosome 22. J Med Genet 33:952-956.
152. Schinzel A, Basaran S, Bernasconi F, Karaman B, Yüksel-Apak M, Robinson WP. 1993. Maternal uniparental disomy 22 has no impact on the phenotype. Am J Hum Genet 54:21-24.
153. (Robinson WP, Bernasconi F, Basaran S, Yüksel-Apak M, Neri G, Serville F, Balicek P, Haluza R, Farah LMS, Lüleci G, Schinzel A. 1994. A somatic origin of homologous Robertsonian translocations and isochromosomes. Am J Hum Genet 54:290-302.)
154. Kirkels VGHJ, Hustin Th WJ, Scheres JMJC. 1980. Habitual abortion and translocation (22q;22q): unexpected transmission from a mother to her phenotypically normal daughter. Clin Genet 18:456-461.
155. Palmer CG, Schwartz S, Hodes ME. 1980. Transmission of a balanced homologous t(22q;22q) translocation from mother to normal daughter. Clin Genet 17:418-422.
156. Miny P, Koppers B, Bogadanova N, Schulte-Vallentin M, Horst J, Dworniczak B. 1995. Paternal uniparental disomy 22. Med Genetik 7:216:H-76.
157. Fritz B, Böck A, Aslan M, Braun M, Haas O, Winkler E, Rehder H. 1998. Uniparental pentasomy X in a girl with 49,XXXXX karyotype. Med Genetik10:109:W8-3.
158. Yorifuji T, Muroi J, Kawai M, Uematsu A, Sasaki H, Momoi T, Kaji M, Yamanaka Ch, Furusho K. 1998. Uniparental and functional X disomy in Turner syndrome patients with unexplained mental retardation and X derived marker chromosomes. J Med Genet 35:539-544.
159. Quan F, Janas J, Toth-Fejel SE, Johnson DB, Wolford JK, Popovich BW. 1997. Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy. Am J Hum Genet 60:160-165.
160. Migeon BR, Jeppesen P, Torchia BS, Fu S, Dunn MA, Axelman J, Schmeckpeper BJ, Fantes J, Zori RT, Driscoll DJ. 1996. Lack of X inactivation associated with maternal X isodisomy: evidence for a counting mechanism prior to X inactivation during human embryogenesis. Am J Hum Genet 58:161-170.
161. Robinson WP, Binkert F, Schinzel A, Basaran S, Mikelsaar R. 1995. Multiple origins of X chromosome tetrasomy. J Med Genet 31:424-425.
162. Avivi L, Korenstein A, Braier-Goldstein O, Goldman B, Ravia Y. 1992. Uniparental disomy of sex chromosomes in man. Am J Hum Genet 51(suppl):33.
163. Yorifuji T, Muroi J, Kawai M, Uematsu A, Sasaki H, Momoi T, Kaji M, Yamanaka Ch, Furusho K. 1998. Uniparental and functional X disomy in Turner syndrome patients with unexplained mental retardation and X derived marker chromosomes. J Med Genet 35:539-544.
164. Schinzel A, Robinson WP, Binkert F, Torresani T, Werder A. 1993. Exclusively paternal X chromosomes in a girl with short stature and gonadal
165. Weil D, Portnoi M-F, Levilliers J, Wang I, Mathieu M, Taillemite J-L, Meier M, Boudailhez B, Petit Ch. 1993. A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata. Hum Mol Genet 2:1853-1856.
166. Vidaud D, Vidaud M, Plassa F, Gazengel C, Noel B, Goossens B. 1989. Father-to-son transmission of hemophilia A due to uniparental disomy. Am J Hum Genet 45(suppl):889.