Systematic search for uniparental disomy in early fetal losses: The results and a review of the literature

American Journal of Medical Genetics

Volumn 79, Issue 5, 1998, Pages 366-372

  Shaffer, Lisa G ^a   McCaskill, Christopher ^a   Adkins, Kenneth ^b   Hassold, Terry J ^b  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Chromosomal mosaicism; Confined placental mosaicism; Embryonic lethality; Genomic imprinting; Molecular polymorphism

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CYTOGENETICS; EMBRYO DEATH; FETUS; FETUS WASTAGE; GENETIC COMPLEMENTATION; GENETIC POLYMORPHISM; GENETIC SCREENING; GENOME IMPRINTING; HUMAN; HUMAN TISSUE; NONDISJUNCTION; PATHOGENESIS; PRIORITY JOURNAL; TRISOMY; UNIPARENTAL DISOMY;

CHROMOSOMES, HUMAN; CHROMOSOMES, HUMAN, 1-3; CHROMOSOMES, HUMAN, 13-15; CHROMOSOMES, HUMAN, 16-18; CHROMOSOMES, HUMAN, 19-20; CHROMOSOMES, HUMAN, 21-22 AND Y; CHROMOSOMES, HUMAN, 4-5; CHROMOSOMES, HUMAN, 6-12 AND X; FEMALE; FETAL DEATH; GENETIC MARKERS; GENOMIC IMPRINTING; HUMANS; KARYOTYPING; MALE; MOSAICISM; POLYMORPHISM, GENETIC; PREGNANCY; TRISOMY; X CHROMOSOME;

EID: 0032511751     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19981012)79:5<366::AID-AJMG7>3.0.CO;2-H     Document Type: Article

References (103)

1. 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.
2. Antonarakis SE, Blouin JL, Maher J, Avramopoulos D, Thomas G, Conover Talbot C (1993): Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14. Am J Hum Genet 52:1145-1152.
3. Bartsch O, Peterson MB, Stuhlmann I, Mau G, Frantzen M, Schwinger E, Antonarakis SE, (1994): "Compensatory" uniparental disomy of chromosome 21 in two cases. J Med Genet 31:534-540.
4. Beldjord C, Henry I, Bennani C, Vanhaeke D, Labie D (1992): Uniparental disomy: A novel mechanism for thalassemia major. Blood 80:287-289.
5. Benlian P, Foubert L, Gagné E, Bernard L, De Gennes JL, Langlois S, Robinson W, Hayden M (1996): Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency. Am J Hum Genet 59:431-436.
6. Bennett P, Vaughan J, Henderson D, Loughna S, Moore G (1992): Association between confined placental trisomy, fetal uniparental disomy, and early intrauterine growth retardation. Lancet 340:1284-1285.
7. Bemasconi F, Karagüzel A, Celep F, Keser I, Lüleci G, Dutly F, Schinzel AA (1996): Normal phenotype with maternal isodisomy in a female with two isochromosomes i(2p) and i(2q). Am J Hum Genet 59:1114-1118.
8. Bischoff FZ, Feldman GL, McCaskill C, Subramanian S, Hughes MR, Shaffer LG (1995): Single cell analysis demonstrating somatic mosaicism involving lip in a patient with paternal isodisomy and Beckwith-Wiedemann Syndrome. Hum Mol Genet 4:395-399.
9. Bittencourt MC, Morris MA, Chabod J, Cos 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.
10. 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.
11. Bottani A, Robinson WP, DeLozier-Blanchet CD, Engel E, Morris MA, Schnitt B, Thun-Hohenstein L, Schinzel A (1994): Angelman syndrome due to paternal uniparental disomy of chromosome 15: A milder phenotype? Am J Med Genet 51:35-40.
12. Brzustowicz LM, Allitto BA, Matseoane D, Theve R, Michaud L, Chatkupt S, Sugarman E, Penchaszadeh GK, Suslak L, Koenigsberger MR, GilHam TC, Handelin BL (1994): Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy. Am J Hum Genet 54:482-488.
13. Butler MG (1990): Prader-Willi syndrome: Current understanding of cause and diagnosis. Am J Med Genet 35:319-332.
14. Cassidy SB, Li-Wen L, 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.
15. Cattanach BM, Kirk M (1985): Differential activity of maternally and paternally derived chromosome regions in mice. Nature 315:496-498.
16. Christian SL, Smith ACM, Macha M, Black SH, Elder FFB, Johnson JM-P, Resta RG, Surti U, Suslak L, Verp MS, Ledbetter DH (1996): Prenatal diagnosis of uniparental disomy 15 following trisomy 15 mosaicism. Prenat Diagn 16:323-332.
17. Copeland NG, Jenkins NA, Gilbert DJ, Eppig JT, Maltais LJ, Miller JC, Dietrich WF, Weaver A, Lincoln SE, Steen RG, Stein LD, Nadeau JH, Lander ES (1993): A genetic linkage map of the mouse: Current applications and future prospects. Science 262:57-66.
18. Cotter PD, Kaffe S, McCurdy 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.
19. Coviello DA, Panucci E, Mantero MM, Perfumo C, Guelfi M, Borrone C, Dagna-Bricarelli F (1996): Maternal uniparental disomy for chromosome 14. Acta Genet Med Gemellol (Roma) 45:169-172.
20. Créau-Goldberg N, Gegonne A, Delabar J, Cochet C, Cabanis M-O, Stehelin D, Turleau C, de Grouchy J (1987): Maternal origin of a de novo balanced t(21q21q) identified by ets-2 polymorphism. Hum Genet 76: 396-398.
21. 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 Diagn 17:81-86.
22. Dwomiczak B, Koppers B, Kuriemann G, Holzgreve W, Horst J, Miny P (1992): Uniparental disomy with normal phenotype. Lancet 340:1285.
23. Eggerding FA, Schonberg SA, Chehab FF, Norton ME, Cox VA, Epstein CJ (1994): Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation. Am J Hum Genet 55:253-265.
24. Engel E (1980): A new genetic concept: Uniparental disomy and its potential effect, isodisomy. Am J Med Genet 6:137-143.
25. Engel E, DeLozier-Blanchet CD (1991): Uniparental disomy, isodisomy, and imprinting: Probable effects in man and strategies for their detection. Am J Med Genet 40: 432-439.
26. Freeman SB, May KM, Pettay D, Fernhoff PM, Hassold TJ (1993): Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome. Am J Med Genet 45:625-630.
27. Gelb BD, Willner JP, Dunn TM, Kardon NB, Verloes A, Poncin J, Desnick RJ (1998): Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis. Am J Hum Genet 62:848-854.
28. Griffin D, Millie E, Redline R, Hassold T, Zaragoza M (1997): Cytogenetic analysis of spontaneous abortions: Comparison of techniques and assessment of the incidence of confined placental mosaicism. Am J Med Genet 72:297-301.
29. Hamabe J, Fukushima Y, Harada N, Abe K, Matsuo N, Nagai T, Yoshioka A, Tonoki H, Tsukino R, Niikawa N (1991): Molecular study of the Prader-Willi syndrome: Deletion, RFLP, and phenotype analyses of 50 patients. Am J Med Genet 41:54-63.
30. Hansen WF, Bernard LE, Langlois S, Rao KW, Chescheir NC, Aylsworth AS, Smith DI, Robinson WP, Barrett IJ, Kalousek DK (1997): Maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias, and oligohydramnios. Prenat Diagn 17:443-150.
31. 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.
32. Hassold TJ, Jacobs PA (1984): Trisomy in man. Annu Rev Genet 18:69-97.
33. Hassold TJ, Pettay D, Freeman SB, Grantham M, Takaesu N (1991): Molecular studies of non-disjunction in trisomy 16. J Med Genet 28:159-162.
34. 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.
35. 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.
36. Henry I, Bonaiti-Pellie C, Chehensse V, Beldjord C, Schwartz C, Utermann G, Junien C (1991): Uniparental paternal disomy in a genetic cancer-predisposing syndrome. Nature 351:665-667.
37. Höglund P, Holmberg C, 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.
38. James RS, Temple IK, Patch C, Thompson EM, Hassold T, Jacobs PA (1994): A systematic search for uniparental disomy in carriers of chromosome translocations. Eur J Hum Genet 2:83-95.
39. 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.
40. Jones C, Booth C, Rita D, Jazmines L, Spiro R, McCaskill C, Shaffer LG (1995): Identification of a case of maternal disomy of chromosome 10 associated with confined placental mosaicism. Prenat Diagn 15:843-848.
41. 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 Med Genet 52:8-16.
42. Kalousek DK, 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.
43. Kirkels VGH, Hustinx TWJ, Scheres MJC (1980): Habitual abortion and translocation (22q;22q): Unexpected transmission from a mother to her phenotypically normal daughter. Clin Genet 18:456-461.
44. Koehler KE, Hawley RS, Sherman S, Hassold T (1996): Recombination and nondisjunction in humans and flies. Hum Mol Genet 5:1495-1504.
45. Kotzot D, Schmitt S, Bernasconi F, Robinson WP, Lurie IW, IIyina H, Mehes K, Hamel BCJ, Otten BJ, Hergersberg M, Werder E, Schoenle E, Schinzel A (1995): Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Hum Mol Genet 4:583-587.
46. Langlois S, Yong SL, Wilson RD, Kwong LC, Kalousek DK (1995): Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7. J Med Genet 32:871-875.
47. Lindor NM, Jalal SM, Thibodeau SN, Bonde D, Sauser KL, Kames PS (1993): Mosaic trisomy 16 in a thriving infant: Maternal heterodisomy for chromosome 16. Clin Genet 44:185-189.
48. Lindor NM, Karnes PS, Michels W, Dewald GW, Goerss J, Jalal S, Jenkins RB, Vockley G, Thibodeau SN (1995): Uniparental disomy in congenital disorders: A prospective study. Am J Med Genet 58:143-146.
49. Malcolm S, Clayton-Smith J, Nichols M, Robb S, Webb T, Armour JAL, Jeffreys AJ, Pembrey ME (1991): Uniparental paternal disomy in Angelman syndrome. Lancet 1:694-697.
50. Martin RN, Rademaker AW, Hildebrand K, Long-Simpson L, Peterson D, Yamamoto J (1987): Variation in the frequency and type of sperm chromosomal abnormalities among normal men. Hum Genet 77:108-114.
51. Mascari MJ, Gottlieb W, Rogan PK, Butler MG, Waller DA, Armour JAL, Jeffreys AJ, Ladda RL, Nicholls RD (1992): The frequency of uniparental disomy in Prader-Willi syndrome. N Engl J Med 326:1599-1607.
52. Moore GE, Ali Z, Khan RU, Blunt S, Bennett PR, Vaughan JI (1997): The incidence of uniparental disomy associated with intrauterine growth retardation in a cohort of thirty-five severely affected babies. Am J Obstet Gynecol 176:294-299.
53. 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.
54. 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.
55. 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.
56. Pan Y, McCaskill C, 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.
57. Papenhausen PR, Mueller OT, Johnson VP, Sutcliffe M, Diamond TM, 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.
58. Pentao L, Lewis RA, Ledbetter DH, Patel PI, Lupski JR (1992): Uniparental disomy of chromosome 14 associated with autosomal recessive rod monochromacy. Am J Hum Genet 50:690-699.
59. 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.
60. 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.
61. Pulkkinen L, Bullrich F, Czarnecki P, Weiss L, Uitto J (1997): Maternal Uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMBS locus in a patient with Herlitz junctional epidermolysis bullosa. Am J Hum Genet 61:611-619.
62. Purvis-Smith SG, Saville T, Manass S, Yip M.-Y, Lam-Po-Tang PRL, Duffy B, Johnston H, Leigh D, McDonald B (1992): Uniparental disomy 15 resulting from "correction" of an initial trisomy 15. Am J Hum Genet 50:1348-1350.
63. Quan F, Janas J, Toth-Fejel S, 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.
64. Ramsden S, Gaunt L, Seres-Santamaria A, Clayton-Smith J (1996): A case of Angelman syndrome arising as a result of a de novo Robertsonian translocation. Acta Genet Med Gemellol (Roma) 45:255-261.
65. Robinson WP, Bottani A, Yagang X, Balakrishman J, Binkert F, Machler M, Prader A, Schinzel A (1991): Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients. Am J Hum Genet 49:1219-1234.
66. Robinson WP, Lorda-Sanchez I, Malcolm S, Langlois S, Schuffenhauer S, Knoblauch H, Horsthemke B, Schinzel AA (1993): Increased parental ages and uniparental disomy 15: A paternal age effect? Eur J Hum Genet 1:280-286.
67. Robinson WP, Bernasconi F, Basaran S, Yüksel-Apak M, Neri G, Serville F, Zizka J, Haluza R, Farah LMS, Luleci G, Schinzel AA (1994): A somatic origin of homologous Robertsonian translocations and isochromosomes. Am J Hum Genet 54:290-302.
68. Robinson WP, Langlois S, Schuffenhauer S, Horsthemke B, Michaelis RC, Christian S, Ledbetter DH, Schinzel A (1996): Cytogenetic and age-dependent risk factors associated with uniparental disomy 15. Prenat Diagn 16:837-544.
69. 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 is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth retardation. Am J Hum Genet 60:917-927.
70. Schinzel AA, Robinson WP, Binkert F, Torresani T, Werder EA (1993): Exclusively paternal X chromosomes in a girl with short stature. Hum Genet 92:175-178.
71. Schinzel AA, Basaaran S, Bernasconi F, Karaman B, Yüksel-Apak M, Robinson WP (1994): Maternal uniparental disomy 22 has no impact on the phenotype. Am J Hum Genet 54:21-24.
72. Schneider AS, Bischoff FZ, McCaskill C, Stopfer JE, Shaffer LG (1996): Maternal disomy for chromosome 16 in a chromosomally normal male with short stature: Case presentation and literature review. Am J Med Genet 66:204-208.
73. Searle AV, Beechey CV (1978): Complementation studies with mouse translocations. Cytogenet Cell Genet 20:282-303.
74. Shaffer LG, Overhauser J, Jackson L, Ledbetter DH (1993): Genetic syndromes and uniparental disomy: A study of 16 cases of Brachmann-de Lange Syndrome. Am J Med Genet 47:383-386.
75. Shaffer LG, McCaskill C, 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 61:461-462.
76. Sherman SL, Takaesu N, Freeman SB, Grantham M, Phillips C, Blackston RD, Jacobs PA, Cockwell AE, Freeman V, Uchida I, Mikkelsen M, Kurnit DM, Buraczynska M, Keats BJB, Hassold TJ (1991): Trisomy 21: Association between reduced recombination and nondisjunction. Am J Hum Genet 49:608-620.
77. Sirchia SM, de Andreis C, 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.
78. Slater H, Shaw JH, Dawson G, Bankier A, Forrest SM (1994): Maternal uniparental disomy of chromosome 13 in a phenotypically normal child. J Med Genet 31:644-646.
79. 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 32:493.
80. Slatter RE, Elliott M, Welham K, Carrera M, Schofield PN, Barton DE, Maher ER (1994): Mosaic uniparental disomy in Beckwith-Wiedemann syndrome. J Med Genet 31:749-753.
81. Smith A, Robson L, Neumann A, Mulcahy M, Chabros V, Deng Z-M, Woodage T, Trent RJ (1993): Fluorescence in situ hybridisation and molecular studies used in the characterisation of a Robertsonian translocation (13q15q) in Prader-Willi syndrome. Clin Genet 43:5-8.
82. Spence JE, Perciaccante RG, Greig GM, Willard HF, Ledbetter DH, Hejtmancik JF, Pollack MS, O'Brien WE, Bcaudet AL (1988): Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet 42:217-226.
83. Splitt MP, Goodship JA (1997): Another case of maternal uniparental disomy chromosome 14 syndrome. Am J Med Genet 72:239-240.
84. 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.
85. Stallard R, Krueger S, James RS, Schwartz S (1995): Uniparental isodisomy in a normal female due to transmission of a maternal t(13q13q). Am J Med Genet 57:14-18.
86. Sulisalo T, Mäkitie O, Sistonen P, Ridanpää M, El-Rifai W, Ruuskanen O, de la Chapelle A, Kaitila I (1997): Uniparental disomy in cartilage-hair hypoplasia. Eur J Hum Genet 5:35-42.
87. Temple IK, Cockwell A, Hassold T, Pettay D, Jacobs P (1991): Maternal uniparental disomy for chromosome 14. J Med Genet 28:511-514.
88. Tomkins DJ, Roux A-F, Waye J, Freeman VCP, Cox DW, Whelan DT (1996): Maternal uniparental isodisomy of human chromosome 14 associated with a paternal t(13q14q) and precocious puberty. Eur J Hum Genet 4:153-159.
89. Tonk V, Schultz RA, Christian SL, Kubota T, Ledbetter DH, Wilson GN (1996): Robertsonian (15q;15q) translocation in a child with Angelman syndrome: Evidence of uniparental disomy. Am J Med Genet 66:426-428.
90. Vaughan J, Ali Z, Bower S, Bennett P, Chard T, Moore G (1994): Human maternal uniparental disomy for chromosome 16 and fetal development. Prenat Diagn 14:751-756.
91. Voss R, Ben-Simon E, Avital A, Godfrey S, Zlotogora J, Dagan J, Tikochinski Y, Hillel J (1989): Isodisomy of chromosome 7 in a patient with cystic fibrosis: Could disomy be common in humans? Am J Hum Genet 45:373-380.
92. Walter CA, Kaye CI, Shaffer LG, Huff RW, Ghidoni PD, McCaskill C, McFarland MB, Moore CM (1996): Short limbed dwarfism and hypertrophic cardiomyopathy in a patient with partial paternal isodisomy 14: 45,XY,dic(14;14)(p11;p11). Am J Med Genet 65:259-265.
93. Wang J-CC, 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 48:1068-1074.
94. Warburton D (1988): Uniparental disomy: A rare consequence of the high rate of aneuploidy in human gametes. Am J Hum Genet 42:215-216.
95. 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.
96. 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. Prenat Diagn 16:958-962.
97. Welch TR, Beischel LS, Choi E, Balakrishnan K, Bishof NA (1990): Uniparental isodisomy 6 associated with deficiency of the fourth component of complement. J Clin Invest 49:675-678.
98. Whiteford ML, Coutts J, Al-Roomi L, Mather A, Lowther G, Cooke A, Vaughan JI, Moore GE, Tolmie JL (1995): Uniparental isodisomy for chromosome 16 in a growth-retarded infant with congenital heart disease. Prenat Diagn 15:579-584.
99. 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.
100. 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.
101. Willatt LR, 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.
102. Woo V, Bridge PJ, Bamforth JS (1997): Maternal uniparental heterodisomy for chromosome 16: Case report. Am J Med Genet 70:387-390.
103. Woodage T, Prasad M, Dixon JW, Selby RE, Romain DR, Columbano-Green LM, Graham D, Rogan P, Seip JR, Smith A, Trent RJ (1994): Bloom syndrome and maternal uniparental disomy for chromosome 15. Am J Hum Genet 55:74-80.