Tetrasomy 12p (Pallister-Killian syndrome): difficulties in prenatal diagnosis
Author:
Publisher
Springer Science and Business Media LLC
Subject
Obstetrics and Gynaecology,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s00404-009-1059-3.pdf
Reference20 articles.
1. Abad DE, Gabarre JA, Izquierdo AM, López-Sánchez C, García-Martínez V, Izquierdo AG (2006) Pallister-Killian syndrome presenting with a complex congenital heart defect and increased nuchal translucency. J Ultrasound Med 25:1475–1480
2. Ballif BC, Rorem EA, Sundin K, Lincicum M, Gaskin S, Coppinger J, Kashork CD, Shaffer LG, Bejjani BA (2006) Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet 140:2757–2767. doi: 10.1002/ajmg.a.31539
3. Bernert J, Bartels I, Gatz G, Hansmann I, Heyat M, Niedmann PD, Rehder H, Waldenmaier C, Zoll B (1992) Prenatal diagnosis of the Pallister-Killian mosaic aneuploidy syndrome by CVS. Am J Med Genet 42:747–750. doi: 10.1002/ajmg.1320420525
4. Boyle AH, Kulkarni R, Smoleniec JS, Davies T, McDermott A (1993) Prenatal diagnosis of Pallister-Killian syndrome by chorionic villus sampling—its diagnostic problems. Prenat Diagn 13:1160–1161. doi: 10.1002/pd.1970131215
5. Bresson JL, Arbez-Gindre F, Peltie J, Gouget A (1991) Pallister Killian–mosaic tetrasomy 12 p syndrome. Another prenatally diagnosed case. Prenat Diagn 11:271–275. doi: 10.1002/pd.1970110409
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3. Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis;American Journal of Medical Genetics Part A;2018-10-05
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