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Volumn 498, Issue 2, 2012, Pages 237-241

Prenatal diagnosis of partial trisomy 3q resulting from t(3;14) in a fetus with multiple anomalies including vermian hypoplasia

Author keywords

3q duplication syndrome; Dandy Walker complex; Partial trisomy 3q

Indexed keywords

ADULT; ARTICLE; BRAIN MALFORMATION; CASE REPORT; CEREBELLAR VERMIS HYPOPLASIA; CEREBELLUM VERMIS; CHROMOSOME 14; CHROMOSOME 3Q; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYDROCEPHALUS; HYPOPLASIA; KARYOTYPE 46,XY; PARTIAL TRISOMY 3; PARTIAL TRISOMY 3Q; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

EID: 84862800162     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.01.070     Document Type: Article
Times cited : (9)

References (26)
  • 1
    • 0141483178 scopus 로고    scopus 로고
    • Human SLITRK family genes: genomic organization and expression profiling in normal brain and brain tumor tissue
    • Aruga J., Yokota N., Mikoshiba K. Human SLITRK family genes: genomic organization and expression profiling in normal brain and brain tumor tissue. Gene 2003, 315:87-94.
    • (2003) Gene , vol.315 , pp. 87-94
    • Aruga, J.1    Yokota, N.2    Mikoshiba, K.3
  • 2
    • 33846898823 scopus 로고    scopus 로고
    • 13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients
    • Ballarati L., et al. 13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients. J. Med. Genet. 2007, 44:e60.
    • (2007) J. Med. Genet. , vol.44
    • Ballarati, L.1
  • 3
    • 19944394831 scopus 로고    scopus 로고
    • Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations
    • Bergametti F., et al. Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations. Am. J. Hum. Genet. 2005, 76:42-51.
    • (2005) Am. J. Hum. Genet. , vol.76 , pp. 42-51
    • Bergametti, F.1
  • 4
    • 63049083462 scopus 로고    scopus 로고
    • Neurodevelopmental outcomes in children with cerebellar malformations: a systemic review
    • Bolduc M.E., Limperopoulos C. Neurodevelopmental outcomes in children with cerebellar malformations: a systemic review. Dev. Med. Child Neurol. 2009, 51:256-267.
    • (2009) Dev. Med. Child Neurol. , vol.51 , pp. 256-267
    • Bolduc, M.E.1    Limperopoulos, C.2
  • 5
  • 7
    • 0030444221 scopus 로고    scopus 로고
    • Prenatal diagnosis of supernumerary der(22)t(11;22) associated with the Dandy-Walker malformation in a fetus
    • Chen C.P., Liu F.F., Jan S.W., Yang Y.C., Lan C.C. Prenatal diagnosis of supernumerary der(22)t(11;22) associated with the Dandy-Walker malformation in a fetus. Prenat. Diagn. 1996, 16:1137-1140.
    • (1996) Prenat. Diagn. , vol.16 , pp. 1137-1140
    • Chen, C.P.1    Liu, F.F.2    Jan, S.W.3    Yang, Y.C.4    Lan, C.C.5
  • 8
    • 18744412353 scopus 로고    scopus 로고
    • Prenatal diagnosis of the Dandy-Walker malformation and ventriculomegaly associated with partial trisomy 9p and distal 12p deletion
    • Chen C.P., et al. Prenatal diagnosis of the Dandy-Walker malformation and ventriculomegaly associated with partial trisomy 9p and distal 12p deletion. Prenat. Diagn. 2002, 22:1063-1066.
    • (2002) Prenat. Diagn. , vol.22 , pp. 1063-1066
    • Chen, C.P.1
  • 9
    • 1842846476 scopus 로고    scopus 로고
    • Prenatal diagnosis of partial trisomy 3p and partial monosomy 11q in a fetus with a Dandy-Walker variant and trigonocephaly
    • Chen C.P., et al. Prenatal diagnosis of partial trisomy 3p and partial monosomy 11q in a fetus with a Dandy-Walker variant and trigonocephaly. Prenat. Diagn. 2002, 22:1112-1113.
    • (2002) Prenat. Diagn. , vol.22 , pp. 1112-1113
    • Chen, C.P.1
  • 10
    • 11244294622 scopus 로고    scopus 로고
    • Association of partial trisomy 9p and the Dandy-Walker malformation
    • Chen C.P., Chen C.P., Shih J.C. Association of partial trisomy 9p and the Dandy-Walker malformation. Am. J. Med. Genet. 2005, 132A:111-112.
    • (2005) Am. J. Med. Genet. , vol.132 A , pp. 111-112
    • Chen, C.P.1    Chen, C.P.2    Shih, J.C.3
  • 11
    • 34247520468 scopus 로고    scopus 로고
    • Phenotypic and cytogenetic spectrum of 9p trisomy
    • Chen C.P., et al. Phenotypic and cytogenetic spectrum of 9p trisomy. Genet. Couns. 2007, 18:29-48.
    • (2007) Genet. Couns. , vol.18 , pp. 29-48
    • Chen, C.P.1
  • 12
    • 0033598346 scopus 로고    scopus 로고
    • Familial dementia caused by polymerization of mutant neuroserpin
    • Davis R.L., et al. Familial dementia caused by polymerization of mutant neuroserpin. Nature 1999, 401:376-379.
    • (1999) Nature , vol.401 , pp. 376-379
    • Davis, R.L.1
  • 13
    • 17844369432 scopus 로고    scopus 로고
    • Multiple congenital malformations including severe eye anomalies and abnormal cerebellar development with Dandy-Walker malformation in a girl with partial trisomy 3q
    • De Azevedo Moreira L.M., et al. Multiple congenital malformations including severe eye anomalies and abnormal cerebellar development with Dandy-Walker malformation in a girl with partial trisomy 3q. Ophthalmic Genet. 2005, 26:37-43.
    • (2005) Ophthalmic Genet. , vol.26 , pp. 37-43
    • De Azevedo Moreira, L.M.1
  • 14
    • 16244373354 scopus 로고    scopus 로고
    • EIF2B5 mutations compromise GFAP+ astrocyte generation in vanishing white matter leukodystrophy
    • Dietrich J., et al. EIF2B5 mutations compromise GFAP+ astrocyte generation in vanishing white matter leukodystrophy. Nat. Med. 2005, 11:277-283.
    • (2005) Nat. Med. , vol.11 , pp. 277-283
    • Dietrich, J.1
  • 17
    • 0038497419 scopus 로고    scopus 로고
    • Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase
    • Korner C., Knauer R., Stephani U., Marquardt T., Lehle L., von Figura K. Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase. EMBO J. 1999, 18:6816-6822.
    • (1999) EMBO J. , vol.18 , pp. 6816-6822
    • Korner, C.1    Knauer, R.2    Stephani, U.3    Marquardt, T.4    Lehle, L.5    von Figura, K.6
  • 18
    • 44849116897 scopus 로고    scopus 로고
    • How accurately does current fetal imaging identify posterior fossa anomalies?
    • Limperopoulos C., et al. How accurately does current fetal imaging identify posterior fossa anomalies?. Am. J. Roentgenol. 2008, 190:1637-1643.
    • (2008) Am. J. Roentgenol. , vol.190 , pp. 1637-1643
    • Limperopoulos, C.1
  • 19
    • 64849101161 scopus 로고    scopus 로고
    • The fetal cerebellum. Pitfalls in diagnosis and management
    • Malinger G., Lev D., Lerman-Sagie T. The fetal cerebellum. Pitfalls in diagnosis and management. Prenat. Diagn. 2009, 29:372-380.
    • (2009) Prenat. Diagn. , vol.29 , pp. 372-380
    • Malinger, G.1    Lev, D.2    Lerman-Sagie, T.3
  • 20
    • 18044366412 scopus 로고    scopus 로고
    • A girl with inverted triplication of chromosome 3q25.3→q29 and multiple congenital anomalies consistent with 3q duplication syndrome
    • Ounap K., Ilus T., Bartsch O. A girl with inverted triplication of chromosome 3q25.3→q29 and multiple congenital anomalies consistent with 3q duplication syndrome. Am. J. Med. Genet. A 2005, 134:434-438.
    • (2005) Am. J. Med. Genet. A , vol.134 , pp. 434-438
    • Ounap, K.1    Ilus, T.2    Bartsch, O.3
  • 21
    • 34248230251 scopus 로고    scopus 로고
    • Dandy-Walker complex in a boy with a 5 Mb deletion of region 1q44 due to a paternal t(1;20)(q44;q13.33)
    • Poot M., et al. Dandy-Walker complex in a boy with a 5 Mb deletion of region 1q44 due to a paternal t(1;20)(q44;q13.33). Am. J. Med. Genet. A 2007, 143:1038-1044.
    • (2007) Am. J. Med. Genet. A , vol.143 , pp. 1038-1044
    • Poot, M.1
  • 22
    • 77952106775 scopus 로고    scopus 로고
    • Unbalanced translocation 6p/16q (partial monosomy 6p and trisomy 16q): prenatal diagnosis and cytogenetics
    • Puhl A.G., et al. Unbalanced translocation 6p/16q (partial monosomy 6p and trisomy 16q): prenatal diagnosis and cytogenetics. Eur. J. Obstet. Gynecol. Reprod. Biol. 2010, 150:119-125.
    • (2010) Eur. J. Obstet. Gynecol. Reprod. Biol. , vol.150 , pp. 119-125
    • Puhl, A.G.1
  • 23
    • 0034625250 scopus 로고    scopus 로고
    • Neuroligin expressed in nonneuronal cells triggers presynaptic development in contacting axons
    • Scheiffele P., Fan J., Choih J., Fetter R., Serafini T. Neuroligin expressed in nonneuronal cells triggers presynaptic development in contacting axons. Cell 2000, 101:657-669.
    • (2000) Cell , vol.101 , pp. 657-669
    • Scheiffele, P.1    Fan, J.2    Choih, J.3    Fetter, R.4    Serafini, T.5
  • 24
    • 0019795274 scopus 로고
    • The dup(3q) syndrome: report of eight cases and review of the literature
    • Steinbach P., et al. The dup(3q) syndrome: report of eight cases and review of the literature. Am. J. Med. Genet. 1981, 10:159-177.
    • (1981) Am. J. Med. Genet. , vol.10 , pp. 159-177
    • Steinbach, P.1
  • 25
    • 3543047320 scopus 로고    scopus 로고
    • A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3
    • Tonkin E.T., et al. A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3. Hum. Genet. 2004, 115:139-148.
    • (2004) Hum. Genet. , vol.115 , pp. 139-148
    • Tonkin, E.T.1
  • 26
    • 18244368230 scopus 로고    scopus 로고
    • Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype
    • Van Bever Y., et al. Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype. Am. J. Med. Genet. A 2005, 135:91-95.
    • (2005) Am. J. Med. Genet. A , vol.135 , pp. 91-95
    • Van Bever, Y.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.