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Volumn 19, Issue 1, 2008, Pages 65-69

Interstitial 1q42-q44 deletion defined by fish in a short-lived female

Author keywords

1q42 syndrome; Interstitial deletion; Phenotype genotype

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 1Q; CLINICAL FEATURE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; INTERSTITIAL CHROMOSOME DELETION; KARYOTYPE 46,XX; NEWBORN; NEWBORN DEATH; SKIN APLASIA;

EID: 44649178616     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (2)

References (16)
  • 1
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    • (1985) Clin. Genet , vol.27 , pp. 515-519
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  • 4
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    • Terminal deletion chromosome 1(q43) in a female infant
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  • 9
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    • Interstitial deletion of 1q42.13-q43 with Duane retraction syndrome
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    • KATO, Z.1    YAMAGISHI, A.2    KONDO, N.3
  • 11
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    • PUTHURAN M.J., ROWLAND-HILL C.A., SIMSON J., PAIRAUDEAU P.W., MABBOTT J.L., MORRIS S.M., CROW Y.J.: Chromosome 1q42 deletion and agenesis of the corpus callosum. Am. J. Med. Genet., 2005, 138A, 68-69.
    • PUTHURAN M.J., ROWLAND-HILL C.A., SIMSON J., PAIRAUDEAU P.W., MABBOTT J.L., MORRIS S.M., CROW Y.J.: Chromosome 1q42 deletion and agenesis of the corpus callosum. Am. J. Med. Genet., 2005, 138A, 68-69.
  • 12
    • 33746584788 scopus 로고    scopus 로고
    • Microdissection-based high-resolution genomic array analysis of two patients with cytogenetically identical interstitial deletions of chromosome 1q but distinct clinical phenotypes
    • RICE G.M., QI Z., SELZER R., RICHMOND T., THOMSON K., PAULI R.M., YU J.: Microdissection-based high-resolution genomic array analysis of two patients with cytogenetically identical interstitial deletions of chromosome 1q but distinct clinical phenotypes. Am. J. Med. Genet., 2006, 140A, 1637-1643.
    • (2006) Am. J. Med. Genet , vol.140 A , pp. 1637-1643
    • RICE, G.M.1    QI, Z.2    SELZER, R.3    RICHMOND, T.4    THOMSON, K.5    PAULI, R.M.6    YU, J.7
  • 14
    • 0018929795 scopus 로고
    • Interstitial deletion of the long arm of chromosome 1,del(1)(q21→q25) in a profoundly retarded 8-year-old girl with multiple anomalies
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    • SCHINZEL, A.1    SCHMID, W.2
  • 15
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    • A familial paracentric inv(1)(q42q44) resulting in a child with a del(1)(q42) karyotype
    • SPEEVAK M., HUNTER A.G.W., HUGHES H., COX D.M.: A familial paracentric inv(1)(q42q44) resulting in a child with a del(1)(q42) karyotype. Ann. Genet., 1985, 28, 177-180.
    • (1985) Ann. Genet , vol.28 , pp. 177-180
    • SPEEVAK, M.1    HUNTER, A.G.W.2    HUGHES, H.3    COX, D.M.4
  • 16
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    • 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., ROOMS L., LARIDON A., REYNIERS E., VAN LUIJK R., SCHEERS S., WAUTERS J., KOOY R.F.: 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., 2005, 135A, 91-95.
    • (2005) Am. J. Med. Genet , vol.135 A , pp. 91-95
    • VAN BEVER, Y.1    ROOMS, L.2    LARIDON, A.3    REYNIERS, E.4    VAN LUIJK, R.5    SCHEERS, S.6    WAUTERS, J.7    KOOY, R.F.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.