Abstract
Tetrasomy 9p syndrome, a clinically diagnosable condition, is a rare cytogenetic disorder characterized by tetrasomy 9p associated with a distinctive patterns of multiple congenital anomalies. In 1973, Ghymers et al. (1973) first described the syndrome.
References
Abe, T., Morita, M., Kawai, K., et al. (1977). Partial tetrasomy 9 (9qter 9q2101) due to extra iso-dicentric chromosome. Annales de Génétique, 20, 111–114.
Callen, D. F., Eyre, H. J., Yip, M. Y., et al. (1992). Molecular cytogenetic and clinical studies of 42 patients with marker chromosomes. American Journal of Medical Genetics, 43, 709–715.
Chen, C.-P., Wang, L.-K., Chern, S.-R., et al. (2014). Mosaic tetrasomy 9p at amniocentesis: Prenatal diagnosis, molecular cytogenetic characterization, and literature review. Taiwanese Journal of Obstetrics & Gynecology, 53, 79–85.
Crolla, J. A., Long, F. L., Rivera, H., et al. (1998). FISH and molecular study of autosomal supernumerary marker chromosomes excluding those derived from chromosomes 15 and 22. American Journal of Medical Genetics, 75, 355–366.
Cuoco, C., Gimelli, G., Pasquali, F., et al. (1982). Duplication of the short arm of chromosome 9. Analysis of five cases. Human Genetics, 61, 3–7.
de Azevedo Moreira, L. M., Freitas, L. M., Gusmao, F. A., et al. (2003). New case of non-mosaic tetrasomy 9p in a severely polymalformed newborn girl. Birth Defects Research. Part A, Clinical and Molecular Teratology, 67, 985–988.
de Pater, J., Van der Sijs-Bos, C., Prins, M., et al. (2006). Prenatal identification of a marker chromosome 16 by chromosome microdissection and reverse FISH. European Journal of Medical Genetics, 49, 306–312.
Dhandha, S., Hogge, W. A., Surti, U., et al. (2002). Three cases of tetrasomy 9p. American Journal of Medical Genetics, 113, 375–380.
Eggermann, T., Rossier, E., Theurer-Mainka, U., et al. (1998). New case of mosaic tetrasomy 9p with additional neurometabolic findings. American Journal of Medical Genetics, 75, 530–533.
El Khattabi, L., Jaillard, S., Andrieux, J., et al. (2015). Clinical and molecular delineation of tetrasomy 9p syndrome: Report of 12 new cases and literature review. American Journal of Medical Genetics Part A, 167A, 1252–1261.
Frémond, M.-L., Gitiaux, C., Bonnet, D., et al. (2015). Mosaic tetrasomy 9p: A Mendelian condition associated with pediatric-onset overlap myositis. Pediatrics, 136, e544–e547.
Fryns, J. P. (1998). Trisomy 9p and tetrasomy 9p. A unique, clinically recognisable syndrome. Genetic Counseling, 9, 229–230.
Ghymers, D., Hermann, B., Disteche, C., et al. (1973). Partial tetrasomy of number 9 chromosome, and mosaicism in a child with multiple malformations (author’s translation). Humangenetik, 20(3), 273–282.
Grass, F. S., Parke, J. C., Kirkman, H. N., et al. (1993). Tetrasomy 9p: Tissue-limited idic(9p) in a child with mild manifestations and a normal CVS result. Report and review. American Journal of Medical Genetics, 47, 812–816.
Jalal, S. M., Kukolich, M. K., Garcia, M., et al. (1991). Tetrasomy 9p: An emerging syndrome. Clinical Genetics, 39, 60–64.
Langer, S., Fauth, C., Murken, M. R. J., et al. (2001). AcroM fluorescent in situ hybridization analyses of marker chromosomes. Human Genetics, 109, 152–158.
Lazebnik, N., & Cohen, L. (2015). Prenatal diagnosis and findings of tetrasomy 9p. Journal of Obstetrics and Gynaecology Research, 41, 997–1002.
Lloveras, E., Perez, C., Sole, F., et al. (2004). Two cases of tetrasomy 9p syndrome with tissue limited mosaicism. American Journal of Medical Genetics, 124A, 402–406.
Mahjoubi, F., Peters, G. B., Malafiej, P., et al. (2005). An analphoid marker chromosome inv dup(15)(q26.1qter), detected during prenatal diagnosis and characterized via chromosome microdissection. Cytogenetic and Genome Research, 109, 485–490.
Melaragno, M. I., Brunoni, D., da Silva Patricio, F. R., et al. (1992). A patient with tetrasomy 9p, Dandy-Walker cyst and Hirschsprung disease. Annales de Génétique, 35, 79–84.
Nakamura-Pereira, M., do Cima, L. C., Llerena, J. C., Jr., et al. (2009). Sonographic findings in a case of tetrasomy 9p associated with increased nuchal translucency and Dandy-Walker malformation. Journal of Clinical Ultrasound, 37, 471–474.
Nietzel, A., Rocchi, M., Starke, H., et al. (2001). A new multicolor-FISH approach for the characterization of marker chromosomes: Centromere-specific multicolor-FISH (cenM-FISH). Human Genetics, 108, 199–204.
Papenhausen, P., Riscile, G., Miller, K., et al. (1990). Tissue limited mosaicism in a patient with tetrasomy 9p. American Journal of Medical Genetics, 37, 388–391.
Papoulidis, I., Kontodiou, M., Tzimina, M., et al. (2012). Tetrasomy 9p mosaicism associated with a normal phenotype in two cases. Cytogenetic and Genome Research, 136, 237–241.
Podolsky, R., Saltzman, D., Auerbach, M., et al. (2011). Absent nasal bone as a marker of tetrasomy 9p. Prenatal Diagnosis, 31, 1313.
Schaefer, G. B., Domek, D. B., Morgan, M. A., et al. (1991). Tetrasomy of the short arm of chromosome 9: Prenatal diagnosis and further delineation of the phenotype. American Journal of Medical Genetics, 38, 612–615.
Shapiro, S., Hansen, K., & Littlefield, C. (1985). Brief clinical report: Non-mosaic partial tetrasomy and partial trisomy 9. American Journal of Medical Genetics, 20, 271–276.
Shehab, M. I., Mazen, I., & Bint, S. (2011). Tissue-specific mosaicism for tetrasomy 9p uncovered by array CGH. American Journal of Medical Genetics Part A, 155A, 2496–2500.
Tan, Y.-Q., Chen, X. M., Hu, L., et al. (2007). Prenatal diagnosis of nonmosaic tetrasomy 9p by microdissection and FISH: Case report. Chinese Medical Journal, 120, 1281–1283.
Tang, W., Wenger, S. L., Boyd, B. K., et al. (2004). Prenatal diagnosis of tetrasomy 9p. American Journal of Medical Genetics, 126A, 328.
Tonk, V. S. (1997). Moving towards a syndrome: A review of 20 cases and a new case of non-mosaic tetrasomy 9p with long-term survival. Clinical Genetics, 52, 23–29.
Uhrig, S., Schuffenhauer, S., Fauth, C., et al. (1999). Multiplex-FISH (M-FISH) for pre- and postnatal diagnostic applications. American Journal of Human Genetics, 65, 448–462.
Wang, H., Xie, L.-S., Wang, Y., et al. (2015). Prenatal diagnosis of mosaic tetrasomy 9p in a fetus with isolated persistent left superior vena cava. Taiwanese Journal of Obstetrics & Gynecology, 54, 204–205.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
Copyright information
© 2016 Springer Science+Business Media LLC
About this entry
Cite this entry
Chen, H. (2016). Tetrasomy 9p Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_226-2
Download citation
DOI: https://doi.org/10.1007/978-1-4614-6430-3_226-2
Received:
Accepted:
Published:
Publisher Name: Springer, New York, NY
Online ISBN: 978-1-4614-6430-3
eBook Packages: Springer Reference Biomedicine and Life SciencesReference Module Biomedical and Life Sciences