References
- Méndez-Rosado LA, Hechavarría D, de la Torre ME, et al. Current status of prenatal diagnosis in Cuba: causes of low prevalence of Down syndrome. Prenat Diagn 2014;34:1–6
- Kowalcek I, Muhlhoff A, Bachmann S. Depressive reactions and stress related to prenatal medicine procedures. Ultrasound Obstet Gynecol 2002;19:18–23
- Liehr T, Ziegler M. Rapid prenatal diagnostics in the interphase nucleus: procedure and cut-off rates. J Histochem Cytochem 2005;53:289–91
- Hsu LYF, Kaffe S, Jenkins BC, et al. Proposed guidelines fordiagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies. Prenat Diagn 1992;12:555–73
- Ried T, Landes G, Dackowski W, et al. Multicolor fluorescence in situ hybridization for the simultaneous detection of probe sets for chromosomes 13, 18, 21, X and Y in uncultured amniotic fluid cells. Hum Mol Genet 1992;1:307–13
- Van Opstal D, Van Hemel JO, Sachs ES. Fetal aneuploidy diagnosed by fluorescence in-situ hybridisation within 24 hours after amniocentesis. Lancet 1993;342:802
- Luquet I, Mugneret F, Athis PD, et al. French multi-centric study of 2000 amniotic fluid interphase FISH analyses from high-risk pregnancies and review of the literature. Ann Genet 2002;45:77–88
- Van Opstal D, van den Berg C, Galjaard R, Los FJ. Follow-up investigations in uncultured amniotic fluid cells after uncertain cytogenetic results. Prenat Diagn 2001;21:75–80
- Halley DJ, Los FJ. Prenatal diagnosis of trisomy 9: cytogenetic, FISH, and DNA studies. Prenat Diagn 1997;17:933–40
- Chih-Ping C, Fang-Yu H, Schu-Rern C, et al. Application of interphase FISH to uncultured amniocytes for rapid confirmation of true trisomy 2 mosaicism in the case of suspected amniocytes mosaicism involving trisomy 2 in a single colony. Taiwan J Obstet Gynecol 2013;52:300–2
- Yurov YB, Vorsanova SG, Iourov IY, et al. Unexplained autism is frequently associated with low-level mosaic aneuploidy. J Med Genet 2007;44:521–5
- Chih-Ping C, Yi-Ning S, Yi-Yung C, et al. Usefulness of interphase FISH on uncultured amniocytes for rapid confirmation of low-level trisomy 7 mosaicism in a pregnancy with fetal intrauterine growth restriction and microcephaly. Taiwan J Obstet Gynecol 2012;51:471–4
- van Ravenswaaij-Arts CM, Tuerlings JH, VanHeyst AF, et al. Misinterpretation of trisomy 18 as a pseudomosaicism at third-trimester amniocentesis of a child with a mosaic 46,XY/47,XY, +3/48,XXY, +18 karyotype. Prenat Diagn 1997;17:375–9
- Stefanou EG, Crocker M, Boon A, Stewart H. Cryptic mosaicism for monosomy 20 identified in renal tract cells. Prenat Diagn 1993;13:661–70
- Webb T, Hardy CA, King M, et al. A clinical, cytogenetic and molecular study of ten probands with supernumerary inv dup (15) marker chromosomes. Clin Genet 1998;53:34–43
- Houá W, Wang T. Unusual features in children with inv dup (15) supernumerary marker: a study of genotype–phenotype correlation in Taiwan. Eur J Pediatr 1998;157:122–7
- Battaglia A. The inv dup (15) or idic (15) syndrome: a clinically recognisable neurogenetic disorder. Brain Dev 2005;27:365–9