References
- Nguyen JM, Qualmann KJ, Okashah R, Reilly A, Alexeyev MF, Campbell DJ. 5p deletions: current knowledge and future directions. Am J Med Genet. 2015;169C:224–38. doi:10.1002/ajmg.c.31444.
- Niebuhr E. The cri du chat syndrome: epidemiology, cytogenetics, and clinical features. Hum Genet. 1978;44:227–75. doi:10.1007/bf00394291.
- Teoh X, Tan T, Chow K, Lee I. Prenatal diagnosis of cri-du-chat syndrome: importance of ultrasonographical markers. Singapore Med J. 2009;50:e181–4.
- Mirlesse V, Courtiol C, Althuser M, Duyme M. Ultrasonography of the fetal brainstem: a biometric and anatomical, multioperator, cross‐sectional study of 913 fetuses of 21–36 weeks of gestation. Prenat Diagn. 2010;30:739–45.
- Sherer D, Sokolovski M, Dalloul M, Pezzullo J, Osho J, Abulafia O. Nomograms of the axial fetal cerebellar hemisphere circumference and area throughout gestation. Ultrasound Obstet Gynecol. 2007;29:32. doi:10.1002/uog.3879.
- Wigglesworth J, Singer D. Textbook of fetal and perinatal pathology. 2nd ed. Boston: Wiley-Blackwell; 1998. p. 26.
- Hatta T, Satow F, Hatta J, Hashimoto R, Udagawa J, Matsumoto A, Otani H. Development of the pons in human fetuses. Congenit Anom. 2007;47:63–7. doi:10.1111/j.1741-4520.2007.00145.x.
- Marinescu RC, Johnson EI, Dykens EM, Hodapp RM, Overhauser J. No relationship between the size of the deletion and the level of developmental delay in cri-du-chat syndrome. Am J Med Genet. 1999;86:66–70. doi:10.1002/(sici)1096-8628(19990903)86:1<66::aid-ajmg13>3.0.co;2-n.
- Cornish KM, Cross G, Green A, Willatt L, Bradsh JM. A neuropsychological-genetic profile of atypical cri du chat syndrome: implications for prognosis. J Med Genet. 1999;36:567–70.
- Mainardi PC, Perfumo C, Calì A, Coucourde G, Pastore G, Cavani S, Zara F, Overhauser J, Pierluigi M, Bricarelli FD, et al. Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation. J Med Genet. 2001;38:151–8. doi:10.1136/jmg.38.3.151.
- Mak AS, Ma TW, Chan KY, Kan AS, Tang MH, Leung KY. Prenatal diagnosis of 5p deletion syndrome: report of five cases. J Obstet Gynaecol Res. 2019;45:923–6. doi:10.1111/jog.13911.
- Cardoso MC, Raposo MI, Ormonde M, Monteiro R, Sampaio A, Cosme P, Mota-Vieira L. Prenatal sonographic diagnosis of isolated fetal ascites in cri-du-chat (5p-) syndrome: a case report. J Clin Ultrasound. 2019;47:232–4. doi:10.1002/jcu.22679.
- Chen CP, Lee CC, Chang TY, Town DD, Wang W. Prenatal diagnosis of mosaic distal 5p deletion and review of the literature. Prenat Diagn. 2004;24:50–7. doi:10.1002/pd.794.
- Vialard F, Robyr R, Hillion Y, Gomes DM, Selva J, Ville Y. Dandy–Walker syndrome and corpus callosum agenesis in 5p deletion. Prenat Diagn. 2005;25:311–3.
- Han YJ, Kwak DW. Prenatal diagnosis of 5p deletion syndrome: a case series report. J Genet Med. 2017;14:34–7. doi:10.5734/JGM.2017.14.1.34.
- Bakkum JN, Watson WJ, Johansen KL, Brost BC. Prenatal diagnosis of cri du chat syndrome with encephalocele. Am J Perinatol. 2005;22:351–2. doi:10.1055/s-2005-871656.
- Kato Z, Kondo N, Kato H, Morita H, Teramoto T, Miyamoto K, Shimizu K. Selective pontine hypoplasia: a possible common feature in 5p monosomy syndrome. Brain Dev. 2011;33:702–3. doi:10.1016/j.braindev.2010.11.004.
- Ninchoji T, Takanashi J-I. Pontine hypoplasia in 5p-syndrome: a key MRI finding for a diagnosis. Brain Dev. 2010;32:571–3. doi:10.1016/j.braindev.2009.07.003.