Placental mesenchymal dysplasia associated with fetal overgrowth and mosaic deletion of the maternal copy of 11p15.5

American Journal of Medical Genetics, Part A

Volumn 143, Issue 15, 2007, Pages 1752-1759

  Robinson, W P ^a,e   Slee, J ^b   Smith, N ^c   Murch, A ^c   Watson, S K ^d   Lam, W L ^d   McFadden, D E ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b PRINCESS MARGARET HOSPITAL FOR CHILDREN   (Australia)

^c KING EDWARD MEMORIAL HOSPITAL   (Australia)

^d BRITISH COLUMBIA CANCER RESEARCH CENTRE   (Canada)

^e NONE   (Canada)

Author keywords

11p15.5; Beckwith Wiedemann syndrome; Imprinting; Placental mesenchymal dysplasia

Indexed keywords

ARTICLE; ASCITES; BECKWITH WIEDEMANN SYNDROME; CARDIOMEGALY; CASE REPORT; CHROMOSOME 11P; CHROMOSOME 17Q; CHROMOSOME DELETION; CHROMOSOME MOSAICISM; CYTOGENETICS; DIFFERENTIAL DIAGNOSIS; DYSPLASIA; FETUS; FETUS DEATH; FETUS GROWTH; GENE DOSAGE; HUMAN; MALE; MESENCHYME; MOLECULAR GENETICS; PLACENTA; PRIORITY JOURNAL;

ADULT; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 11; DNA; FEMALE; HUMANS; INFANT, NEWBORN; MALE; MATERNAL AGE; MOSAICISM; PATERNAL AGE; PLACENTA;

EID: 34547657943     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31800     Document Type: Article

References (40)

1. Adam GIR, Cui H, Miller SJ, Flam F, Ohlsson R. 1996. Allele specific in situ hybridization (ASISH) analysis: A novel technique which resolves differential alleleic usage of H19 within the same cell lineage during human placental development. Development 122:839-847.
2. Alders M, Hodges M, Hadjantonakis AK, Postmus J, van Wijk I, Bliek J, de Meulemeester M, Westerveld A, Guillemot F, Oudejans C, Little P, Mannens M. 1997. The human Achaete-Scute homologue 2 (ASCL2,HASH2) maps to chromosome 11p15.5, close to IGF2 and is expressed in extravillus trophoblasts. Hum Mol Genet 6:859-867.
3. Barton SC, Surani MA, Norris ML. 1984. Role of paternal and maternal genomes in mouse development. Nature 311:374-376.
4. Caspary T, Cleary MA, Perlman EJ, Zhang P, Elledge SJ, Tilghman SM. 1999. Oppositely imprinted genes p57(Kip2) and igf2 interact in a mouse model for Beckwith-Wiedemann syndrome. Genes Dev 13:3115-3124.
5. Chi B, DeLeeuw RJ, Coe BP, MacAulay C, Lam WL. 2004. SeeGH - A software tool for visualization of whole genome array comparative genomic hybridization data. BMC Bioinform 5:13.
6. Cohen MC, Roper EC, Sebire NJ, Stanek J, Anumba DO. 2005. Placental mesenchymal dysplasia associated with fetal aneuploidy. Prenat Diagn 25:187-192.
7. Cooper WN, Luharia A, Evans GA, Raza H, Haire AC, Grundy R, Bowdin SC, Riccio A, Sebastio G, Bliek J. et al. 2005. Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome. Eur J Hum Genet 13:1025-1032.
8. Drut RM, Drut R. 1996. Nonimmune fetal hydrops and placento-megaly: Diagnosis of familial Wiedemann-Beckwith syndrome with trisomy 11p15 using FISH. Am J Med Genet 62:145-149.
9. Dutly F, Baumer A, Kayserili H, Yuksel-Apak M, Zerova T, Hebisch G, Schinzel A. 1998. Seven cases of Wiedmann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11. Am J Med Genet 79:347-353.
10. Fisher RA, Hodges MD. 2003. Genomic imprinting in gestational trophoblastic disease - A review. Placenta 24: S111-S118.
11. Frank D, Fortino W, Clark L, Musalo R, Wang W, Saxena A, Li CM, Reik W, Ludwig T, Tycko B. 2002. Placental overgrowth in mice lacking the imprinted gene Ipl. Proc Natl Acad Sci USA 99:7490-7495.
12. Genuardi M, Tozzi C, Pomponi MG, Stagni ML, Della Monica M, Scarano G, Calvieri F, Torrisi L, Neri G. 1999. Mosaic trisomy 17 in amniocytes: Phenotypic outcome, tissue distribution, and uniparental disomy studies. Eur J Hum Genet 7:421-426.
13. Gibson BR, Muir-Padilla J, Champeaux A, Suarez ES. 2004. Mesenchymal dysplasia of the placenta. Placenta 25:671-672.
14. Hsu LYF, Yu MT, Neu RL, Van Dyke DL, Benn PA, Bradshaw CL, Shaffer LG, Higgins RR, Khodr GS, Morton CC, Wang H, Brothman AR, Chadwick D, Disteche CM, Jenkins LS, Kalousek DK, Pantzar TJ, Wyatt P. 1997. Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13,18, 20 and 21: Karyotype/ Phenotype correlations. Prenat Diag 17:201-242.
15. Ishkanian AS, Malloff CA, Watson SK, DeLeeuw RJ, Chi B, Coe BP, Snijciers A, Albertson DG, Pinkel D, Marra MA, Ling V, MacAulay C, Lam WL. 2004. A tiling resolution DNA microarray with complete coverage of the human genome. Nat Genet 36:299-303.
16. Jauniaux E, Nicolaides KH, Hustin J. 1997. Perinatal features associated with placental mesenchymal dysplasia. Placenta 18:701-706.
17. Jong K, Marchiori E, Meijer G, Vaart AV, Ylstra B. 2004. Breakpoint identification and smoothing of array comparative genomic hybridization data. Bioinformatics 20:3636-3637.
18. Kaiser-Rogers KA, McFadden DE, Livasy CA, Dansereau J, Jiang R, Knops JF, Lefebvre L, Rao KW, Robinson WP. 2005. Androgenetic/biparental mosaicism causes placental mesenchymal dysplasia. J Med Genet 43:187-192.
19. Khojasteh M, Lam WL, Ward RK, MacAulay C. 2005. A stepwise framework for the normalization of array CGH data. BMC Bioinform 6:274.
20. Lomax B, Tang S, Separovic E, Phillips D, Hillard E, Thomson T, Kalousek DK. 2000. Comparative genomic hybridization in combination with flow cytometry improves results of cytogenetic analysis of spontaneous abortions. Am J Hum Genet 66:1516-1521.
21. Matsui H, Iitsuka Y, Yamazawa K, Tanaka N, Mitsuhashi A, Seki K, Sekiya S. 2003. Placental mesenchymal dysplasia initially diagnosed as partial mole. Pathol Int 53:810-813.
22. McCowan LM, Becroft DM. 1994. Beckwith-Wiedemann syndrome, placental abnormalities, and gestational proteinuric hypertension. Obstet Gynecol 83:813-817.
23. Nassar AH, Chakhtoura N, Martin D. 2000. Update on prenatal diagnosis of true mosaic trisomy 17 in amniocyte cultures. Prenat Diagn 20:521-522.
24. Ohyama M, Kojyo T, Gotoda H, Sato T, Ijiri R, Tanaka Y. 2000. Mesenchymal dysplasia of the placenta. Pathol Int 50:759-764.
25. Paradinas FJ, Sebire NJ, Fisher RA, Rees HC, Foskett M, Seckl MJ, Newlands ES. 2001. Pseudo-partial moles: Placental stem vessel hydrops and the association with Beckwith-Wiedemann syndrome and complete moles. Histopathology 39: 447-454.
26. Pinar H, Sung CJ, Oyer CE, Singer DB. 1996. Reference values for singleton and twin placental weights. Pediatr Pathol Lab Med; 16:903. In: Kraus FT, Redline RW, Gersell DJ, Nelson DM, Dicke JM, editors. Placental Pathology Fascicle 3 First Series Atlas of Nontumor Pathology. Washington, DC: American Registry of Pathology in collaboration with the Armed Forces Institute of Pathology. p 315.
27. Reish O, Lerer I, Amiel A, Heyman E, Herman A, Dolfin T, Abeliovich D. 2002. Wiedemann-Beckwith syndrome: Further prenatal characterization of the condition. Am J Med Genet 107:209-213.
28. Robinson WP, Lauzon JL, Innes AM, Lim K, Arsovska S, McFadden DE. 2007. Origin and outcome of pregnancies affected by androgenetic/biparental chimerism. Hum Reprod 22:1114-1122.
29. Shapiro LR, Duncan PA, Davidian MM, Singer N. 1982. The placenta in familial Beckwith-Wiedemann syndrome. Birth Defects Orig Artic Ser 18:203-206.
30. Shuman C, Smith AC, Steele L, Ray PN, Clericuzio C, Zackai E, Parisi MA, Meadows AT, Kelly T, Tichauer D, Squire JA, Sadowski P, Weksberg R. 2006. Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies. Am J Med Genet Part A 140A:1497-1503.
31. Stocker JT, Dehner LP. 2001. Pediatric Pathology. 2nd edition. Philadelphia: Lippincott Williams & Wilkins. Appendix 27. p 1436.
32. Surani MA, Barton SC, Norris ML. 1984. Development of reconstituted mouse eggs suggests imprinting of the genome during gametogenesis. Nature 308:548-550.
33. Surti U, Hill LM, Dunn J, Prosen T, Hoffner L. 2005. Twin pregnancy with a chimeric androgenetic and biparental placenta in one twin displaying placental mesenchymal dysplasia phenotype. Prenat Diagn 25:1048-1056.
34. Surti U, Hoffner L, Kolthoff M, Dunn J, Hunt J, Sniezek L, Macpherson T. 2006. Persistent gestational trophoblastic disease after an androgenetic/ biparental fetal chimera: A case report and review. Int J Gynecol Pathol 25:366-372.
35. Takahashi K, Kobayashi T, Kanayama N. 2000. p57(Kip2) regulates the proper development of labyrinthine and spongiotrophoblasts. Mol Hum Reprod 6:1019-1025.
36. Takayama M, Soma H, Yaguchi S, Funayama H, Fujiwara K, Irie H, Yamabe S. 1986. Abnormally large placenta associated with Beckwith-Wiedemann syndrome. Gynecol Obstet Invest 22:165-168.
37. Usher R, McLean F. 1969- Intrauterine growth of live-born Caucasian infants at sea level: Standard obtained from measurements in 7 dimensions of infants born between 25 and 44 weeks of gestation. J Pediatr 74:901-910.
38. Utermann B, Riegel M, Leistritz D, Karall T, Wisser J, Meisner L, Fauth C, Baldinger R, Johnson J, Erdel M, Taralczak M, Pauli RM, Baumer A, Schinzel A, Kotzot D. 2006. Pre- and postnatal findings in trisomy 17 mosaicism. Am J Med Genet Part A 140A:1628-1636.
39. Weksberg R, Smith AC, Squire J, Sadowski P. 2003. Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development. Hum Mol Genet 12:R61-R68.
40. Weksberg R, Shuman C, Smith AC. 2005. Beckwith-Wiedemann syndrome. Am J Med Genet Part C Semin Med Genet 137C: 12-23.