Severe intrauterine growth restriction and trisomy 15 confined placental mosaicism: A case report and review of literature

Prenatal Diagnosis

Volumn 25, Issue 2, 2005, Pages 140-147

  Redaelli, Serena ^a,b   Sala, Elena ^a   Roncaglia, Nadia ^c   Colombo, Carla ^d   Crosti, Francesca ^a   Villa, Nicoletta ^a   Tagliabue, Paolo ^d   Cappellini, Anna ^a   Dalprà, Leda ^a,b  

^a Medical Genetics Lab   (Italy)

^b UNIVERSITY OF MILANO BICOCCA   (Italy)

^c HSGerardo   (Italy)

^d Neonatal Intensive Care Unit   (Italy)

Author keywords

Confined placental mosaicism (CPM); Intrauterine growth restriction (IUGR); Trisomy 15; Uniparental disomy (UPD)

Indexed keywords

AMNION FLUID ANALYSIS; AUTOPSY; CASE REPORT; CHROMOSOME MOSAICISM; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN TISSUE; INFANT; INTRAUTERINE GROWTH RETARDATION; MALE; PLACENTA; PRIORITY JOURNAL; REVIEW; SKIN FIBROBLAST; TRISOMY; TRISOMY 15; UNIPARENTAL DISOMY;

ADULT; CHROMOSOMES, HUMAN, PAIR 15; DIAGNOSIS, DIFFERENTIAL; DNA; FEMALE; FETAL GROWTH RETARDATION; FIBROBLASTS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MOSAICISM; PEDIGREE; PLACENTA; PREGNANCY; PRENATAL DIAGNOSIS; TRISOMY;

EID: 14744269525     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.1093     Document Type: Review

References (30)

1. Bernard LE, Kalousek DK, Langlois S, et al. 1995. Confined placental mosaicism for trisomy 2 with fetal maternal uniparental disomy of chromosome 2. Am J Hum Genet 57(suppl): A51.
2. Callen DF, Korban G, Dawson G, et al. 1988. Extra embryonic/fetal karyotypic discordance during diagnostic chorionic villus sampling. Prenat Diagn 8: 453-460.
3. Cassidy SB, Lai LW, Erickson RP, et al. 1992. Trisomy 15 with loss of paternal 15 as a cause of Prader-Willi Syndrome due to maternal disomy. Am J Hum Genet 51: 701-708.
4. Chitty LS, Altman DG, Henderson A, Campbell S. 1994. Charts of fetal size: 3. Abdominal measurements. Br J Obstet Gynecol 101: 125-131.
5. Christian SL, Smith ACM, Macha M, et al. 1996. Prenatal diagnosis of uniparental disomy 15 following trisomy 15 mosaicism. Prenat Diagn 16: 323-332.
6. Di Gioia CRT, Ciallella C, D'Amati G, Parroni E, Nardone AM, Gallo P. 2003. Neonatal Williams syndrome presenting as an isolated supravalvular pulmonary stenosis. Arch Pathol Lab Med 127: e367-e370.
7. Engel E. 1993. Uniparental disomy revisited: the first twelve years. Am J Med Genet 46: 670-674.
8. EUCROMIC. 1999. Trisomy 15 CPM: probable origins, pregnancy outcome and risk of fetal UPD: European collaborative research on mosaicism in CVS. Prenat Diagn 19: 29-35.
9. Hansen WF, Bernard LE, Langlois S, et al. 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: 443-450.
10. Kalousek DK, Howard-Peebles PN, Olson SB, et al. 1991. Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth retardation association with confined placental mosaicism. Prenat Diagn 11: 743-750.
11. Koplan C, Lowell DM, Salafia C. 1991. College of American Pathologists Conference XIX on the examination of the placenta: report of the working group on the definition of structural changes associated with abnormal function in the maternal/fetal/placental unit in the second and third trimesters. Arch Pathol Lab Med 115: 709-716.
12. Kotzot D, Lurie IW, Méhes K, Werder E, Schinzel A. 2000. No evidence of uniparental disomy 2, 6, 14, 16, 20 and 22 as major cause of intrauterine growth retardation. Clin Genet 58: 177-180.
13. Ledbetter DH, Engel E. 1995. Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet 4: 1757-1764.
14. Ledbetter DH, Zachary JM, Simpson JL, et al. 1992. Cytogenetic results from the U.S. collaborative study on CVS. Prenat Diagn 12: 317-345.
15. Lestou VS, Kalousek DK. 1998. Confined placental mosaicism and intrauterine fetal growth. Arch Dis Child Fetal Neonatal Ed 79: F223-F226.
16. Markovic VD, Chitayat DA, Ritchie SM, Chodakowski BA, Hutton EM. 1996. Trisomy 15 mosaic derived from trisomic conceptus: report of a case and a review. Am J Med Genet 61: 363-370.
17. Miny P, Hammer P, Gerlach B, et al. 1991. Mosaicism and accuracy of prenatal cytogenetic diagnoses after chorionic villus sampling and placental biopsies. Prenat Diagn 11: 581-589.
18. Morichon-Delvallez N, Mussat P, Dumez Y, Vekemans M. 1993. Trisomy 15 in chorionic villi and Prader-Willi syndrome at birth. Prenat Diagn 13: 307-308.
19. Pittalis MC, Dalprà L, Torricelli F, et al. 1994. The predictive value of cytogenetic diagnosis after CVS based on 4860 cases with both direct and culture methods. Prenat Diagn 14: 267-278.
20. Purvis-Smith SG, Saville T, Manass S, et al. 1992. Uniparental disomy 15 resulting from "correction" of an initial trisomy 15. Am J Hum Genet 50: 1348-1350.
21. Roberts E, Stevenson K, Cole T, Redford DHA, Davison EV. 1997. Prospective prenatal diagnosis of Prader-Willi syndrome due to maternal disomy for chromosome 15 following trisomic zygote rescue. Prenat Diagn 17: 780-783.
22. Robinson WP. 2000. Mechanisms leading to uniparental disomy and their clinical consequences. Bioessays 22: 452-459.
23. Robinson WP, Barrett IJ, Bernard L, et al. 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 restriction. Am J Hum Genet 60: 917-927.
24. Roland B, Lynch L, Berkowitz G, Zinberg R. 1994. Confined placental mosaicism in CVS and pregnancy outcome. Prenat Diagn 14: 589-593.
25. Schulze B, Schlesinger CH, Miller K. 1987. Chromosomal mosaicism confined to chorionic tissue. Prenat Diagn 7: 451-453.
26. 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.
27. Taddei I, Morishima M, Huynh T, Lindsay EA. 2001. Genetic factors are major determinants of phenotypic variability in a mouse model of the Di George/del 22q11 syndromes. PNAS 98: 11 438-11 431.
28. Walczak C, Enders H, Grissinger K, Dufke A. 2000. Retrospective diagnosis of trisomy 15 in formalin-fixed, paraffin-embedded placental tissue in a newborn girl with Prader-Willi syndrome. Prenat Diagn 20: 914-916.
29. Wang BBT, Rubin CH, Williams JIII. 1993. Mosaicism in chorionic villus sampling: an analysis of incidence and chromosomes involved in 2612 consecutive cases. Prenat Diagn 13: 179-190.
30. Ward BE, Gersen SL, Carelli MP, et al. 1993. Rapid prenatal diagnosis of chromosomal aneuploidies by fluorescence in situ hybridization: clinical experience with 4500 speciments. Am J Hum Genet 52: 854-865.