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Volumn 15, Issue 4, 2006, Pages 217-220

Patient with novel interstitial deletion of chromosome 3q13.1q13.3 and agenesis of the corpus callosum

Author keywords

Chromosome analysis; Corpus callosum; Del(3)(q13.1q13.3); Interstitial deletion

Indexed keywords

ARTICLE; CASE REPORT; CELL MIGRATION; CHROMOSOME 1Q; CHROMOSOME 3Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL FEATURE; CORPUS CALLOSUM AGENESIS; FEMALE; HOLOPROSENCEPHALY; HUMAN; NERVE CELL; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCUPATIONAL THERAPY; PHYSIOTHERAPY; PRIORITY JOURNAL; SPEECH THERAPY;

EID: 33748549597     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.mcd.0000220609.17284.a9     Document Type: Article
Times cited : (19)

References (11)
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    • Arai, K.1    Matukiyo, H.2    Takazawa, H.3
  • 5
    • 0027974140 scopus 로고
    • A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum
    • Genuardi M, Calvieri F, Tozzi C, Coslovi R, Neri G (1994). A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum. Clin Dysmorphol 3:292-296.
    • (1994) Clin Dysmorphol , vol.3 , pp. 292-296
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  • 6
    • 7944225563 scopus 로고    scopus 로고
    • Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2
    • Guichet A, Triau S, Lepinard C, Esculapavit C, Biquard F, Descamps P, et al. (2004). Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2. Prenat Diagn 24:828-832.
    • (2004) Prenat Diagn , vol.24 , pp. 828-832
    • Guichet, A.1    Triau, S.2    Lepinard, C.3    Esculapavit, C.4    Biquard, F.5    Descamps, P.6
  • 7
    • 0021922738 scopus 로고
    • Deletion of the proximal long arm of chromosome 3 in an infant with features of Turner syndrome
    • Jenkins MB, Stang HJ, Davis E, Boyd L (1985). Deletion of the proximal long arm of chromosome 3 in an infant with features of Turner syndrome. Ann Genet 28:42-44.
    • (1985) Ann Genet , vol.28 , pp. 42-44
    • Jenkins, M.B.1    Stang, H.J.2    Davis, E.3    Boyd, L.4
  • 8
    • 0031944211 scopus 로고    scopus 로고
    • Deletion of chromosome 3q proximal region gives rise to a variable phenotype
    • Mackie Ogilvie C, Rooney SC, Hodgson SV, Berry AC (1998). Deletion of chromosome 3q proximal region gives rise to a variable phenotype. Clin Genet 53:220-222.
    • (1998) Clin Genet , vol.53 , pp. 220-222
    • Mackie Ogilvie, C.1    Rooney, S.C.2    Hodgson, S.V.3    Berry, A.C.4
  • 9
    • 0036923156 scopus 로고    scopus 로고
    • Delineation of an estimated 6.7Mb candidate interval for an anophthalmia gene at 3q26.33-q28 and description of the syndrome associated with visible chromosome deletions of this region
    • Male A, Davies A, Bergbaum A, Keeling J, FitzPatrick D, Mackie Ogilvie C, Berg J (2002). Delineation of an estimated 6.7Mb candidate interval for an anophthalmia gene at 3q26.33-q28 and description of the syndrome associated with visible chromosome deletions of this region. Eur J Hum Genet 10:807-812.
    • (2002) Eur J Hum Genet , vol.10 , pp. 807-812
    • Male, A.1    Davies, A.2    Bergbaum, A.3    Keeling, J.4    Fitzpatrick, D.5    Mackie Ogilvie, C.6    Berg, J.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.