Mosaic Trisomy 16,
Trisomy 16,
Uniparental Disomy (UPD) and
Confined Placental Mosaicism
References

1. Astner A, et al.
Sonographically detected fetal and placental abnormalities associated with trisomy 16 confined to the placenta. A case report and review of the literature. Prenat Diagn. 1998 Dec;18(12):1308-15. Review. PMID: 9885025; UI: 99100763.
PUBMED LINK

2. Benn P.
Trisomy 16 and trisomy 16 Mosaicism: a review. Am J Med Genet. 1998 Sep 1;79(2):121-33. Review. PMID: 9741470; UI: 98412501.
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3. Gilbertson NJ, et al.
Mosaic trisomy 16 in a live newborn infant. Arch Dis Child. 1990 Apr;65(4 Spec No):388-9. PMID: 2337367; UI: 90247916.
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4. Greally JM, et al.
A molecular anatomical analysis of mosaic trisomy 16. Hum Genet. 1996 Jul;98(1):86-90. PMID: 8682514; UI: 96265132.
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5. Groli C, et al.
Maternal serum screening and trisomy 16 confined to the placenta. Prenat Diagn. 1996 Aug;16(8):685-9. PMID: 8878276; UI: 97032381.
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Human aneuploidy: incidence, origin, and etiology. Environ Mol Mutagen. 1996;28(3):167-75. Review. No abstract available. PMID: 8908177; UI: 97064627
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Maternal age-specific rates of numerical chromosome abnormalities with special reference to trisomy. Hum Genet. 1985;70(1):11-7. PMID: 3997148; UI: 85205907.
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Recombination and maternal age-dependent nondisjunction: molecular studies of trisomy 16. Am J Hum Genet. 1995 Oct;57(4):867-74. PMID: 7573048; UI: 96029281.
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9. Hassold T, et al.
The origin of trisomy in humans. Prog Clin Biol Res. 1995;393:1-12. No abstract available. PMID: 8545442; UI: 96045646.
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10. Hassold T, et al.
Trisomy in humans: incidence, origin and etiology. Curr Opin Genet Dev. 1993 Jun;3(3):398-403. Review. PMID: 8353412; UI: 93357634.
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11. Hsu LY, et al.
Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20, and 21: karyotype/phenotype correlations. Prenat Diagn. 1997 Mar;17(3):201-42. PMID: 9110367; UI: 97264541.
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12. Hsu WT, et al.
Mosaic trisomy 16 ascertained through amniocentesis: evaluation of 11 new cases. Am J Med Genet. 1998 Dec 28;80(5):473-80. PMID: 9880211; UI: 99094820.
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13. Kalousek DK.
Variable clinical expression of mosaic trisomy 16 in the newborn infant.Am J Med Genet. 1994 Aug 1;52(1):115-6. No abstract available. PMID: 7977453; UI: 95068061.
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14. Kalousek DK, et al.
Uniparental disomy for chromosome 16 in humans. Am J Hum Genet. 1993 Jan;52(1):8-16. PMID: 8434609; UI: 93167295.
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15. Kotzot D.
Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15. Am J Med Genet. 1999 Jan 29;82(3):265-74. Review. PMID: 10215553; UI: 99140379.
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16. Lau AW, et al.
Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism. Am J Hum Genet. 1997 Dec;61(6):1353-61. PMID: 9399909; UI: 98153633.
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17. Lindor NM, et al. Mosaic trisomy 16 in a thriving infant: maternal heterodisomy for chromosome 16. Clin Genet. 1993 Oct;44(4):185-9. PMID: 8261647; UI: 94084941.
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18. Los FJ, et al.
Uniparental disomy with and without confined placental mosaicism: a model for trisomic zygote rescue. Prenat Diagn. 1998 Jul;18(7):659-68. PMID: 9706646; UI: 98371944.
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19. Morssink LP, et al.
Placental mosaicism is associated with unexplained second-trimester elevation of MShCG levels, but not with elevation of MSAFP levels. Prenat Diagn. 1996 Sep;16(9):845-51. PMID: 8905899; UI: 97061870.
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20. Paulyson KJ, et al.
Prenatal diagnosis of an infant with mosaic trisomy 16 of paternal origin. Prenat Diagn. 1996 Nov;16(11):1021-6. PMID: 8953635; UI: 97111873.
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21. Pletcher BA, et al.
Postnatal confirmation of prenatally diagnosed trisomy 16 mosaicism in two phenotypically abnormal liveborns. Prenat Diagn. 1994 Oct;14(10):933-40. PMID: 7899268; UI: 95207144.
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22. Robinson WP, et al.
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. 1997 Apr;60(4):917-27. PMID: 9106539; UI: 97260419.
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23. Sanchez JM, et al.
Severe fetal malformations associated with trisomy 16 confined to the placenta. Prenat Diagn. 1997 Aug;17(8):777-9. PMID: 9267904; UI: 97413261.
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Comprehensive 4-year follow-up on a case of maternal heterodisomy for chromosome 16. Am J Med Genet. 1996 Dec 11;66(2):204-8. PMID: 8958332; UI: 97117263. PUBMED LINK

25. Stavropoulos DJ, et al.
Molecular cytogenetic detection of confined gonadal mosaicism in a conceptus with trisomy 16 placental mosaicism. Am J Hum Genet. 1998 Dec;63(6):1912-4. No abstract available. PMID: 9837845; UI: 99057530.
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26. Tantravahi U, et al.
Trisomy 16 mosaicism in amniotic fluid cell cultures. Prenat Diagn. 1996 Aug;16(8):749-54. PMID: 8878286; UI: 97032391.
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Human maternal uniparental disomy for chromosome 16 and fetal development. Prenat Diagn. 1994 Aug;14(8):751-6. PMID: 7527540; UI: 95083554.
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28. Wang JC, et al.
Centromeric DNA break in a 10;16 reciprocal translocation associated with trisomy 16 confined placental mosaicism and maternal uniparental disomy for chromosome 16. Am J Med Genet. 1998 Dec 4;80(4):418-22. PMID: 9856575; UI: 99072395.
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29. Warburton D, et al.
Does the karyotype of a spontaneous abortion predict the karyotype of a subsequent abortion? Evidence from 273 women with two karyotyped spontaneous abortions. Am J Hum Genet. 1987 Sep;41(3):465-83. PMID: 3631080; UI: 87323235.
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30. Whiteford ML, et al.
Uniparental isodisomy for chromosome 16 in a growth-retarded infant with congenital heart disease. Prenat Diagn. 1995 Jun;15(6):579-84. PMID: 7659692; UI: 95388696.
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31. Wolstenholme J.
An audit of trisomy 16 in man. Prenat Diagn. 1995 Feb;15(2):109-21. Review. PMID: 7784361; UI: 95303812.
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32. Woo V, et al.
Maternal uniparental heterodisomy for chromosome 16: case report. Am J Med Genet. 1997 Jun 27;70(4):387-90. PMID: 9182779; UI: 97325767.
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33. Trisomy 16 in a mosaic carrier father and his aborted fetus
18. Yancey MK, et al.
Non-mosaic trisomy 16 in a third-trimester fetus. Obstet Gynecol. 1996 May;87(5 Pt 2):856-60. PMID: 8677115; UI: 96200646.
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