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2010
I. N. Machado, Heinrich, J. K., Campanhol, C., Rodrigues-Peres, R. M., Oliveira, F. M., and Barini, R., Prenatal diagnosis of a partial trisomy 13q (q14→qter): phenotype, cytogenetics and molecular characterization by spectral karyotyping and array comparative genomic hybridization, vol. 9, pp. 441-448, 2010.
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Diagn. 25: 334-336. http://dx.doi.org/10.1002/pd.1126 PMid:15849788   Chen CP, Lin SP, Lee CC, Chen WL, et al. (2005b). Perinatal findings of partial trisomy 13q (13q14.1→qter) resulting from paternal pericentric inversion of chromosome 13. Prenat. Diagn. 25: 527-528. http://dx.doi.org/10.1002/pd.1177 PMid:15966041   Chu TW, Teebi AS, Gibson L, Breg WR, et al. (1994). FISH diagnosis of partial trisomy 13 and tetrasomy 13 in a patient with severe trigonocephaly (C) phenotype. Am. J. Med. Genet. 52: 92-96. http://dx.doi.org/10.1002/ajmg.1320520118 PMid:7977471   Di Bella MA, Cali F, Seidita G, Mirisola M, et al. (2006). Screening of subtelomeric rearrangements in autistic disorder: identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation. Am. J. Med. Genet. B Neuropsychiatr. Genet. 141B: 584-590. http://dx.doi.org/10.1002/ajmg.b.30328 PMid:16823807   Dries D, Baca K, Truss L and Dobin S (2003). Interstitial deletion of 13q and a 13;X chromosome translocation results in partial trisomy 13 and bilateral retinoblastoma. Ophthalmic Genet. 24: 175-180. http://dx.doi.org/10.1076/opge.24.3.175.15612 PMid:12868036   Greenberg F, Carpenter RJ and Ledbetter DH (1983). Cystic hygroma and hydrops fetalis in a fetus with trisomy 13. Clin. Genet. 24: 389-391. http://dx.doi.org/10.1111/j.1399-0004.1983.tb00091.x PMid:6652950   Hall HE, Chan ER, Collins A, Judis L, et al. (2007). The origin of trisomy 13. Am. J. Med. Genet. A 143A: 2242-2248. http://dx.doi.org/10.1002/ajmg.a.31913 PMid:17853475   Jones LA, Taysi K, Strauss AW and Hartmann AF (1979). Partial trisomy 13 as a result of de novo (6p;13q) translocation. Hum. Genet. 48: 245-249. http://dx.doi.org/10.1007/BF00286911 PMid:457146   Jotterand M and Juillard E (1976). A new case of trisomy for the distal part of 13q due to maternal translocation, t(9;13) (p21;q21). Hum. Genet. 33: 213-222. http://dx.doi.org/10.1007/BF00286845 PMid:964983   Kirchhoff M, Bisgaard AM, Stoeva R, Dimitrov B, et al. (2009). Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter. Am. J. Med. Genet. A 149A: 894-905. http://dx.doi.org/10.1002/ajmg.a.32814 PMid:19363806   Landrum BG, Johnson DE, Ferrara B, Boros SJ, et al. (1986). Hydrops fetalis and chromosomal trisomies. Am. J. Obstet. Gynecol. 154: 1114-1115. PMid:2939722   Lin HY, Lin SP, Chen YJ, Hsu CH, et al. (2007). Clinical characteristics and survival of trisomy 13 in a medical center in Taiwan, 1985-2004. Pediatr. Int. 49: 380-386. http://dx.doi.org/10.1111/j.1442-200X.2007.02377.x PMid:17532840   Lukusa T, van den Berghe L, Smeets E and Fryns JP (1999). Proximal trisomy 13q and distal monosomy 8p in a dysmorphic and mentally retarded patient with an isodicentric chromosome 13q and a 13q/8p translocation chromosome. Ann. Genet. 42: 215-220. PMid:10674161   Marszal E, Jamroz E, Pilch J, Kluczewska E, et al. (2000). Agenesis of corpus callosum: clinical description and etiology. J. Child Neurol. 15: 401-405. http://dx.doi.org/10.1177/088307380001500609 PMid:10868784   Martin-Lucas MA, Perez-Castillo A, Abrisqueta JA, de Torres ML, et al. (1982). Partial trisomy 13 due to maternal translocation t(7;13)(p22q14). Ann. Genet. 25: 172-178. PMid:6982670   Mitchell JA, Packman S, Loughman WD, Fineman RM, et al. (1981). Deletions of different segments of the long arm of chromosome 4. Am. J. Med. Genet. 8: 73-89. http://dx.doi.org/10.1002/ajmg.1320080110 PMid:7246608   Nikolis J, Ivanovic K and Diklic V (1991). Partial trisomy 13q resulting from a paternal reciprocal Yq;13q translocation. J. Med. Genet. 28: 425-426. http://dx.doi.org/10.1136/jmg.28.6.425 PMid:1870103 PMCid:1016915   Nyberg DA, Mahony BS, Hegge FN, Hickok D, et al. (1991). Enlarged cisterna magna and the Dandy-Walker malformation: factors associated with chromosome abnormalities. Obstet. Gynecol. 77: 436-442. PMid:1992413   Quadrelli R, Quadrelli A, Milunsky A, Zou YS, et al. (2009). A 14-year follow-up of a case detected prenatally of partial trisomy 13q21.32-qter and monosomy 18q22.3-qter as a result of a maternal complex chromosome rearrangement involving chromosomes 6, 13, and 18. Genet. Test. Mol. Biomarkers 13: 387-393. http://dx.doi.org/10.1089/gtmb.2008.0120 PMid:19473082   Rao VV, Carpenter NJ, Gucsavas M, Coldwell J, et al. (1995). Partial trisomy 13q identified by sequential fluorescence in situ hybridization. Am. J. Med. Genet. 58: 50-53. http://dx.doi.org/10.1002/ajmg.1320580111 PMid:7573156   Ribacoba R, Menendez-Gonzalez M, Hernando I, Salas J, et al. (2008). Partial trisomy 13q22-qter associated to leukoencephalopathy and late onset generalised epilepsy. Int. Arch. Med. 1: 5. http://dx.doi.org/10.1186/1755-7682-1-5 PMid:18471271 PMCid:2391148   Rivas F, Rivera H, Plascencia ML, Ibarra B, et al. (1984). The phenotype in partial 13q trisomies, apropos of a familial (13;15)(q22;q26) translocation. Hum. Genet. 67: 86-93. http://dx.doi.org/10.1007/BF00270563 PMid:6745930   Rodriguez de Alba M, Sanz R, Lorda-Sanchez I, Férnandez-Moya JM, et al. (1999). Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation. Prenat. Diagn. 19: 884-886. http://dx.doi.org/10.1002/(SICI)1097-0223(199909)19:9<884::AID-PD655>3.0.CO;2-W   Russell Z, Kontopoulos EV, Quintero RA, DeBauche DM, et al. (2008). Prenatal diagnosis of a 4q33-4qter deletion in a fetus with hydrops. Fetal Diagn. Ther. 24: 250-253. http://dx.doi.org/10.1159/000151671 PMid:18765938   Tharapel SA, Lewandowski RC, Tharapel AT and Wilroy RS Jr (1986). Phenotype-karyotype correlation in patients trisomic for various segments of chromosome 13. J. Med. Genet. 23: 310-315. http://dx.doi.org/10.1136/jmg.23.4.310 PMid:3746829 PMCid:1049695   Williamson EM, Miller JF and Seabright M (1980). Pericentric inversion (13) with two different recombinants in the same family. J. Med. Genet. 17: 309-312. http://dx.doi.org/10.1136/jmg.17.4.309 PMid:7205907 PMCid:1048576   Yu J, Wu JM, Lin SJ and Tzeng CC (1995). Congenital isolated absence of pulmonary valve in a neonate with partial trisomy 13q. Zhonghua Min Guo. Xiao. Er. Ke. Yi. Xue. Hui. Za Zhi. 36: 214-216. PMid:7618474