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“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.
, Beke A, Joo JG, Csaba A, Lazar L, et al. (2009). Incidence of chromosomal abnormalities in the presence of fetal subcutaneous oedema, such as nuchal oedema, cystic hygroma and non-immune hydrops. Fetal Diagn. Ther. 25: 83-92.
http://dx.doi.org/10.1159/000201946
PMid:19218808
Bonioli E, Crisalli M, Monteverde R and Vianello MG (1981). Karyotype-phenotype correlation in partial trisomy 13. Report of a case due to maternal translocation. Am. J. Dis. Child 135: 1115-1117.
PMid:7315808
Bourthoumieu S, Esclaire F, Terro F, Fiorenza M, et al. (2004). Two unusual chromosome aberrations ascertained by sonographic anomalies. Prenat. Diagn. 24: 219-223.
http://dx.doi.org/10.1002/pd.839
PMid:15057957
Brown S, Gersen S, Anyane-Yeboa K and Warburton D (1993). Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature. Am. J. Med. Genet. 45: 52-59.
http://dx.doi.org/10.1002/ajmg.1320450115
PMid:8418661
Cekada S, Kilvain S, Brajenovic-Milic B, Brecevic L, et al. (1999). Partial trisomy 13q22→qter and monosomy 18q21→qter as a result of familial translocation. Acta Paediatr. 88: 675-678.
http://dx.doi.org/10.1111/j.1651-2227.1999.tb00022.x
PMid:10419257
Chen CP, Chern SR, Lee CC, Town DD, et al. (1999). Bilateral renal agenesis and fetal ascites in association with partial trisomy 13 and partial trisomy 16 due to a 3:1 segregation of maternal reciprocal translocation t(13;16)(q12.3; p13.2). Prenat. Diagn. 19: 783-786.
http://dx.doi.org/10.1002/(SICI)1097-0223(199908)19:8<783::AID-PD635>3.0.CO;2-3
Chen CP, Chern SR, Hsu CY, Lee CC, et al. (2005a). Prenatal diagnosis of de novo partial trisomy 13q (13q22→qter) and partial monosomy 8p (8p23.3→pter) associated with holoprosencephaly, premaxillary agenesis, hexadactyly, and a hypoplastic left heart. Prenat. 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