Variable outcomes in mosaic trisomy 16: five case reports and literature analysis
作者： Katherine Neiswanger , Paul M. Hohler , Lori B. Hively-Thomas , Elizabeth W. McPherson , W. Allen Hogge
DOI: 10.1002/PD.1437
关键词:
摘要: Objectives To report five cases of mosaic trisomy 16 with variable outcomes in the context literature on 16. Complications these include preeclampsia, IUGR, fetal anomalies, and death, no predictable pattern. Methods Observation new statistical analysis 125 reported prenatal detection outcome data. Results (1) premature delivery, and/or physical anomalies are observed commonly, even when is thought to be confined placenta; (2) Level II mosaicism for amniotic fluid may reflect a true state phenotypic consequences; (3) FISH more sensitive than traditional cytogenetics detecting all tissue types examined; (4) hCG levels can extremely elevated, MS-AFP often elevated; (5) Uniparental disomy (UPD) increases rates IUGR CPM cases. Conclusion While there obvious syndrome, heart defects commonly occur, if appears placenta. A completely normal occurs only about 20% cases; however, complications limited prematurity, small-for-gestational-age infants, minor or surgically reparable birth defects. Copyright © 2006 John Wiley & Sons, Ltd.
sci-hub.se 参考文章(100)
M. Mikkelsen, Cytogenetic Findings in First Trimester Chorionic Villi Biopsies: A Collaborative Study Springer, Berlin, Heidelberg. pp. 109- 120 ,(1985) , 10.1007/978-3-642-70707-0_18
Simensen Rj, Colby Rs, Corning Kj, A prenatal counseling conundrum: mosaic trisomy 16. A case study presenting cognitive functioning and adaptive behavior. Genetic Counseling. ,vol. 14, pp. 331- 336 ,(2003)
D K Kalousek, W P Robinson, I J Barrett, R G Best, L Bernard, P N Howard-Peebles, R D Wilson, F Bernasconi, A Telenius, S Langlois, 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 American Journal of Human Genetics. ,vol. 60, pp. 917- 927 ,(1997)
P. Tenti, H. Rehder, Pathology of Chromosome Abnormalities in First Trimester Embryos Springer, Berlin, Heidelberg. pp. 300- 313 ,(1985) , 10.1007/978-3-642-70707-0_48
K Zerres, H E Hughes, M Curtis, T Eggermann, Maternal uniparental disomy 16 and genetic counseling: new case and survey of published cases. Genetic Counseling. ,vol. 15, pp. 183- 190 ,(2004)
T Hassold, S Freeman, S Sherman, K Adkins, M Merrill, Recombination and maternal age-dependent nondisjunction : molecular studies of trisomy 16 American Journal of Human Genetics. ,vol. 57, pp. 867- 874 ,(1995)
D K Kalousek, I Barrett, E Giorgiutti, P N Howard-Peebles, I Yam, D R Wilson, M P Johnson, S Langlois, Uniparental disomy for chromosome 16 in humans. American Journal of Human Genetics. ,vol. 52, pp. 8- 16 ,(1993)
Benjamim José Schmidt, Willy Beçak, Maria Luiza Beçak, Isaac Soibelman, Antonio da Silva Queiroz, Antonio Paulo Lorga, Feres Secaf, Clemente Filho Antonio, Azarias de Andrade Carvalho, Metaphyseal dysostosis. Review of literature; study of a case with cytogenetic analysis. The Journal of Pediatrics. ,vol. 63, pp. 106- 112 ,(1963) , 10.1016/S0022-3476(63)80308-X
Yancey Mk, Donlon Ta, Pacheco C, Hardin El, Kuslich Cd, Non-mosaic trisomy 16 in a third-trimester fetus. Obstetrics & Gynecology. ,vol. 87, pp. 856- 860 ,(1996)
B. Dworniczak, B. Koppers, N. Bogdanova, Clinical follow up of uniparental disomy 16: First data American Journal of Human Genetics. ,vol. 55, ,(1994)