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Volumn 8, Issue 3, 1999, Pages 211-214

A patient with a de novo t (6;9) and an interstitial duplication of (9)(q21.2q22.1)

Author keywords

FISH analysis; Partial duplication 9q; Psychomotor retardation; t (6; 9)

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 9; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; MUSCLE HYPOTONIA; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION;

EID: 0032814650     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-199907000-00011     Document Type: Article
Times cited : (3)

References (11)
  • 2
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    • Fukushima Y, Wakui K, Nakamura Y, Ohashi H (1996). Microphthalmia and 2q23 microdeletion: Detection by FISH study using cosmid probes on a patient with cytogenetically balanced translocation [t(2;2;8)(p21;q23;q22.3)]. Am J Hum Genet 59 (suppl.):A118.
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  • 4
    • 0028029094 scopus 로고
    • Two patients with overlapping dc novo duplications of the long arm of chromosome 9, including one case with Di George sequence
    • Lindgren V, Rosinsky B, Chin J, Berry-Kravis E (1994). Two patients with overlapping dc novo duplications of the long arm of chromosome 9, including one case with Di George sequence. Am J Med Genet 49:67-73.
    • (1994) Am J Med Genet , vol.49 , pp. 67-73
    • Lindgren, V.1    Rosinsky, B.2    Chin, J.3    Berry-Kravis, E.4
  • 5
    • 0025912633 scopus 로고
    • Inversion-duplication of bands q13-q21 of human chromosome 9
    • Luke S, Verma RS, PeBenito R, Macera MJ (1991). Inversion-duplication of bands q13-q21 of human chromosome 9. Am J Med Genet 40:57-60.
    • (1991) Am J Med Genet , vol.40 , pp. 57-60
    • Luke, S.1    Verma, R.S.2    PeBenito, R.3    Macera, M.J.4
  • 6
    • 0021218728 scopus 로고
    • A malformed girl with duplication of chromosome 9q
    • Nakahori Y, and Nakagome Y (1984). A malformed girl with duplication of chromosome 9q. J Med Genet 21:387-388.
    • (1984) J Med Genet , vol.21 , pp. 387-388
    • Nakahori, Y.1    Nakagome, Y.2
  • 8
    • 0027958173 scopus 로고
    • A high-resolution cytogenetic map of human chromosome 9: Localization of 203 new cosmid markers by direct R-banding fluorescence in situ hybridization
    • Takahashi E-I, Koyama K, Hitomi A, Itoh H, Nakamura Y (1994). A high-resolution cytogenetic map of human chromosome 9: Localization of 203 new cosmid markers by direct R-banding fluorescence in situ hybridization. Genomics 19:373-375.
    • (1994) Genomics , vol.19 , pp. 373-375
    • Takahashi, E.-I.1    Koyama, K.2    Hitomi, A.3    Itoh, H.4    Nakamura, Y.5
  • 10
    • 4243429545 scopus 로고    scopus 로고
    • Cytogenetically and genetically anchored FISH probes for the systematic identification of disease-associated balanced chromosome rearrangements (DBCRs)
    • Wirth J, Nothwang H-G, Menzel C, Lopez-Pajares I, Brondum-Nielsen K, Tommerup N, Ropers H-H, Haaf T (1997). Cytogenetically and genetically anchored FISH probes for the systematic identification of disease-associated balanced chromosome rearrangements (DBCRs). Am J Hum Genet 61 (suppl.):A8.
    • (1997) Am J Hum Genet , vol.61 , Issue.SUPPL.
    • Wirth, J.1    Nothwang, H.-G.2    Menzel, C.3    Lopez-Pajares, I.4    Brondum-Nielsen, K.5    Tommerup, N.6    Ropers, H.-H.7    Haaf, T.8
  • 11
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    • Duplication of part of 9q due to maternal 12;9 inverted insertion associated with pyloric stenosis
    • Yamamoto Y, Oguro N, Nara T, Horita H, Niitsu N, Imaizumi S (1988). Duplication of part of 9q due to maternal 12;9 inverted insertion associated with pyloric stenosis. Am J Med Genet 31:379-384.
    • (1988) Am J Med Genet , vol.31 , pp. 379-384
    • Yamamoto, Y.1    Oguro, N.2    Nara, T.3    Horita, H.4    Niitsu, N.5    Imaizumi, S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.