메뉴 건너뛰기




Volumn 39, Issue 1, 2008, Pages 55-57

Corpus Callosum Agenesis in Trisomy 8p11.23 and Monosomy 4q34 Because of Maternal Translocation

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME ABERRATION; CORPUS CALLOSUM AGENESIS; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; FACE DYSMORPHIA; GENE TRANSLOCATION; HUMAN; HYPERTELORISM; KARYOTYPE; MACROCEPHALY; MALE; PARTIAL MONOSOMY; PRIORITY JOURNAL; TRISOMY 8;

EID: 44849144397     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2008.03.012     Document Type: Article
Times cited : (4)

References (23)
  • 1
    • 0022230252 scopus 로고
    • Frequency of agenesis of the corpus callosum in the developmentally disabled population as determined by computerized tomography
    • Jeret J.S., Serur D., Wisniewski K., and Fisch C. Frequency of agenesis of the corpus callosum in the developmentally disabled population as determined by computerized tomography. Pediatr Neurosci 12 (1985) 101-103
    • (1985) Pediatr Neurosci , vol.12 , pp. 101-103
    • Jeret, J.S.1    Serur, D.2    Wisniewski, K.3    Fisch, C.4
  • 2
    • 0041319265 scopus 로고    scopus 로고
    • FISH and cytogenetic characterization of a terminal chromosome 1q deletion: Clinical case report and phenotypic implications
    • Gentile M., Di Carlo A., Volpe P., et al. FISH and cytogenetic characterization of a terminal chromosome 1q deletion: Clinical case report and phenotypic implications. Am J Med Genet 117A (2003) 251-254
    • (2003) Am J Med Genet , vol.117 A , pp. 251-254
    • Gentile, M.1    Di Carlo, A.2    Volpe, P.3
  • 4
    • 0023221034 scopus 로고
    • Trisomy of the short arm of chromosome 5: Autopsy data in a malformed newborn with inv dup (5)(p13.1-p15.3)
    • Kleczkowska A., Fryns J.P., Moerman P., Vanderbenghe K., and Van Den Berghe H. Trisomy of the short arm of chromosome 5: Autopsy data in a malformed newborn with inv dup (5)(p13.1-p15.3). Clin Genet 32 (1987) 49-56
    • (1987) Clin Genet , vol.32 , pp. 49-56
    • Kleczkowska, A.1    Fryns, J.P.2    Moerman, P.3    Vanderbenghe, K.4    Van Den Berghe, H.5
  • 5
    • 0028277332 scopus 로고
    • Proximal deletion of chromosome 21 confirmed by in situ hybridization and molecular studies
    • Courtens W., Petersen M.B., Noel J.C., et al. Proximal deletion of chromosome 21 confirmed by in situ hybridization and molecular studies. Am J Med Genet 51 (1994) 260-265
    • (1994) Am J Med Genet , vol.51 , pp. 260-265
    • Courtens, W.1    Petersen, M.B.2    Noel, J.C.3
  • 6
    • 0035871282 scopus 로고    scopus 로고
    • Cortical axon guidance by the glial wedge during the development of corpus callosum
    • Shu T., and Richards L.J. Cortical axon guidance by the glial wedge during the development of corpus callosum. J Neurosci 21 (2001) 2749-2758
    • (2001) J Neurosci , vol.21 , pp. 2749-2758
    • Shu, T.1    Richards, L.J.2
  • 7
    • 0030977861 scopus 로고    scopus 로고
    • Directed growth of early cortical axons is influenced by a chemoattractant released from an intermediate target
    • Richards L.J., Koester S.E., Tuttle R., and O'Leary D.D. Directed growth of early cortical axons is influenced by a chemoattractant released from an intermediate target. J Neurosci 17 (1997) 2445-2458
    • (1997) J Neurosci , vol.17 , pp. 2445-2458
    • Richards, L.J.1    Koester, S.E.2    Tuttle, R.3    O'Leary, D.D.4
  • 8
    • 0036869041 scopus 로고    scopus 로고
    • Aicardi syndrome: Spectrum of disease and long-term prognosis in 77 females
    • Rosser T.L., Acosta M.T., and Packer R.J. Aicardi syndrome: Spectrum of disease and long-term prognosis in 77 females. Pediatr Neurol 27 (2002) 343-346
    • (2002) Pediatr Neurol , vol.27 , pp. 343-346
    • Rosser, T.L.1    Acosta, M.T.2    Packer, R.J.3
  • 10
    • 0037785470 scopus 로고    scopus 로고
    • Hereditary motor and sensory neuropathy with agenesis of corpus callosum
    • Dupre N., Howard H.C., Mathieu J., et al. Hereditary motor and sensory neuropathy with agenesis of corpus callosum. Ann Neurol 54 (2003) 9-18
    • (2003) Ann Neurol , vol.54 , pp. 9-18
    • Dupre, N.1    Howard, H.C.2    Mathieu, J.3
  • 12
    • 33644554160 scopus 로고    scopus 로고
    • Agenesis of the corpus callosum: Clinical and genetic study in 63 young patients
    • Bedeschi M.F., Bonaglia M.C., Grasso R., et al. Agenesis of the corpus callosum: Clinical and genetic study in 63 young patients. Pediatr Neurol 34 (2006) 186-193
    • (2006) Pediatr Neurol , vol.34 , pp. 186-193
    • Bedeschi, M.F.1    Bonaglia, M.C.2    Grasso, R.3
  • 13
    • 0029655911 scopus 로고    scopus 로고
    • Absence makes the search grow longer
    • Dobyns W.B. Absence makes the search grow longer. Am J Hum Genet 58 (1996) 7-16
    • (1996) Am J Hum Genet , vol.58 , pp. 7-16
    • Dobyns, W.B.1
  • 15
    • 0028293338 scopus 로고
    • Trisomy 8 syndrome owing to isodicentric 8p chromosomes: Regional assignment of a presumptive gene involved in corpus callosum development
    • Digilio M.C., Giannotti A., Floridia G., et al. Trisomy 8 syndrome owing to isodicentric 8p chromosomes: Regional assignment of a presumptive gene involved in corpus callosum development. J Med Genet 31 (1994) 238-241
    • (1994) J Med Genet , vol.31 , pp. 238-241
    • Digilio, M.C.1    Giannotti, A.2    Floridia, G.3
  • 16
    • 0030671373 scopus 로고    scopus 로고
    • Mosaicism in trisomy 8: Phenotype differences according to tissular repartition of normal and trisomic clones
    • Miller K., Arslan-Kirchner A., Schulze B., et al. Mosaicism in trisomy 8: Phenotype differences according to tissular repartition of normal and trisomic clones. Ann Genet 40 (1997) 181-184
    • (1997) Ann Genet , vol.40 , pp. 181-184
    • Miller, K.1    Arslan-Kirchner, A.2    Schulze, B.3
  • 17
    • 67649364715 scopus 로고    scopus 로고
    • Embryology and malformations of the forebrain commissures
    • Sarnat H.B., and Curatolo P. (Eds), Elsevier, Amsterdam
    • Sarnat H.B. Embryology and malformations of the forebrain commissures. In: Sarnat H.B., and Curatolo P. (Eds). Malformations of the nervous system. Handbook of clinical neurology Volume 87 (2008), Elsevier, Amsterdam 67-87
    • (2008) Malformations of the nervous system. Handbook of clinical neurology , vol.87 , pp. 67-87
    • Sarnat, H.B.1
  • 18
    • 0002846655 scopus 로고    scopus 로고
    • Neural tube formation and prosencephalic development
    • Volpe J.J. (Ed), W.B. Saunders Co, Philadelphia
    • Volpe J.J. Neural tube formation and prosencephalic development. In: Volpe J.J. (Ed). Neurology of the newborn. 4th ed. (2001), W.B. Saunders Co, Philadelphia 3-42
    • (2001) Neurology of the newborn. 4th ed. , pp. 3-42
    • Volpe, J.J.1
  • 19
    • 0023792118 scopus 로고
    • Interstitial and terminal deletions of the long arm of chromosome 4: Further delineation of phenotypes
    • Lin A.E., Garver K.L., Diggans G., et al. Interstitial and terminal deletions of the long arm of chromosome 4: Further delineation of phenotypes. Am J Med Genet 31 (1988) 533-548
    • (1988) Am J Med Genet , vol.31 , pp. 533-548
    • Lin, A.E.1    Garver, K.L.2    Diggans, G.3
  • 22
    • 0023927047 scopus 로고
    • Agenesis of the corpus callosum: Clinical, neuroradiolagical and cytogenetic studies
    • Serur D., Jeret J.S., and Wisniewski K. Agenesis of the corpus callosum: Clinical, neuroradiolagical and cytogenetic studies. Neuropediatrics 19 (1988) 87-91
    • (1988) Neuropediatrics , vol.19 , pp. 87-91
    • Serur, D.1    Jeret, J.S.2    Wisniewski, K.3
  • 23
    • 0021804640 scopus 로고
    • Agenesis of the corpus callosum: Clinical features in 40 children
    • Lacey D.J. Agenesis of the corpus callosum: Clinical features in 40 children. Am J Dis Child 139 (1985) 953-957
    • (1985) Am J Dis Child , vol.139 , pp. 953-957
    • Lacey, D.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.