References
- Engel E. A new genetic concept: uniparental disomy and its potential effect, isodisomy. Am J Med Genet. 1980;6:137–143.
- Spence JE, Perciaccante RG, Greig GM, et al. Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet. 1988;42:217–226.
- Robinson WP. Mechanisms leading to uniparental disomy and their clinical consequences. Bioessays. 2000;22:452–459.
- Koehler KE, Hawley RS, Sherman S, et al. Recombination and nondisjunction in humans and flies. Hum Mol Genet. 1996;5:1495–1504.
- Berend SA, Horwitz J, McCaskill C, et al. Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes. Am J Hum Genet. 2000;66:1787–1793.
- Bhatt AD, Liehr T, Bakshi SR. Phenotypic spectrum in uniparental disomy: low incidence or lack of study? Indian J Hum Genet. 2013;19:311–314.
- Shaffer LG, Agan N, Goldberg JD, et al. American College of Medical Genetics statement on diagnostic testing for uniparental disomy. Genet Med. 2001;3:206–211.
- Falls JG, Pulford DJ, Wylie AA, et al. Genomic imprinting: implications for human disease. Am J Pathol. 1999;154:635–647.
- Goldberg JD, Porter AE, Golbus MS. Current assessment of fetal losses as a direct consequence of chorionic villus sampling. Am J Med Genet. 1990;35:174–177.
- Kalousek DK, Howard-Peebles PN, Olson SB, et al. Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth retardation association with confined placental mosaicism. Prenat Diagn. 1991;11:743–750.
- Johnson A, Wapner RJ, Davis GH, et al. Mosaicism in chorionic villus sampling: an association with poor perinatal outcome. Obstet Gynecol. 1990;75:573–577.
- Kalousek DK, Barrett I. Genomic imprinting related to prenatal diagnosis. Prenat Diagn. 1994;14:1191–1201.
- Purvis-Smith SG, Saville T, Manass S, et al. Uniparental disomy 15 resulting from “correction” of an initial trisomy 15. Am J Hum Genet. 1992;50:1348–1350.
- Lestou VS, Kalousek DK. Confined placental mosaicism and intrauterine fetal growth. Arch Dis Child Fetal Neonatal Ed. 1998;79:F223–FF226.
- Robinson WP, Barrett IJ, Bernard L, 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;60:917–927.
- Brzustowicz LM, Allitto BA, Matseoane D, et al. Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy. Am J Hum Genet. 1994;54:482–488.
- Seal JL, Gornick MC, Gogtay N, et al. Segmental uniparental isodisomy on 5q32-qter in a patient with childhood-onset schizophrenia. J Med Genet. 2006;43:887–892.
- Lin SP, Huang SY, Tu ME, et al. Netherton syndrome: mutation analysis of two Taiwanese families. Arch Dermatol Res. 2007;299:145–150.
- Numata S, Hamada T, Teye K, et al. Complete maternal isodisomy of chromosome 5 in a Japanese patient with Netherton syndrome. J Invest Dermatol. 2014;134:849–852.
- García MM, Velez C, Fenollar-Cortés M, et al. Paternal isodisomy of chromosome 5 in a patient with recessive multiple epiphyseal dysplasia. Am J Med Genet A. 2014;164:1075–1078.