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Volumn 62, Issue 1, 1996, Pages 84-90

Unbalanced translocation in a mother and her son in one of two 5;10 translocation families

Author keywords

chromosome painting; deletion 10q; duplication 5q; familial chromosome imbalance; unbalanced translocation

Indexed keywords

CALCIUM; MAGNESIUM;

EID: 0029963007     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960301)62:1<84::AID-AJMG17>3.0.CO;2-R     Document Type: Article
Times cited : (15)

References (30)
  • 3
    • 0006350117 scopus 로고
    • Meiotic studies and fertility in human translocation carriers
    • Liss AR (ed): New York: Alan R Liss
    • Chandley AC (1988): Meiotic studies and fertility in human translocation carriers. In Liss AR (ed): "The Cytogenetics of Mammalian Autosomal Rearrangements." New York: Alan R Liss, pp 361-382.
    • (1988) The Cytogenetics of Mammalian Autosomal Rearrangements , pp. 361-382
    • Chandley, A.C.1
  • 4
    • 0024369132 scopus 로고
    • Detection of an unbalanced translocation (4;14) in a mildly retarded father and son by flow cytometry
    • Cooke A, Tolmie JL, Colgan JM, Greig CM, Connor JM (1989): Detection of an unbalanced translocation (4;14) in a mildly retarded father and son by flow cytometry. Hum Genet 83:83-87.
    • (1989) Hum Genet , vol.83 , pp. 83-87
    • Cooke, A.1    Tolmie, J.L.2    Colgan, J.M.3    Greig, C.M.4    Connor, J.M.5
  • 5
    • 0018355826 scopus 로고
    • Partial trisomy for the distal long arm of chromosome 5 (region q34-qter). A new clinically recognizable syndrome
    • Curry CJR, Loughman WD, Franke U (1979): Partial trisomy for the distal long arm of chromosome 5 (region q34-qter). A new clinically recognizable syndrome. Clin Genet 15:454-461.
    • (1979) Clin Genet , vol.15 , pp. 454-461
    • Curry, C.J.R.1    Loughman, W.D.2    Franke, U.3
  • 6
    • 0024455673 scopus 로고
    • Interstitial deletion, del(4)(q33q35.1) in a mother and two children
    • Curtis MA, Smith RA, Sibert J, Hughes HE (1989): Interstitial deletion, del(4)(q33q35.1) in a mother and two children. J Med Genet 26:652-654.
    • (1989) J Med Genet , vol.26 , pp. 652-654
    • Curtis, M.A.1    Smith, R.A.2    Sibert, J.3    Hughes, H.E.4
  • 8
    • 0023615765 scopus 로고
    • Familial retinoblastoma (mother and son) with 13q14 deletion
    • Fukushima Y, Kuroki Y, Ito T, Kondo I, Nishigaki I (1987): Familial retinoblastoma (mother and son) with 13q14 deletion. Hum Genet 77:104-107.
    • (1987) Hum Genet , vol.77 , pp. 104-107
    • Fukushima, Y.1    Kuroki, Y.2    Ito, T.3    Kondo, I.4    Nishigaki, I.5
  • 10
    • 0025360106 scopus 로고
    • Genomic imprinting: Review and relevance to human diseases
    • Hall JG (1990): Genomic imprinting: Review and relevance to human diseases. Amer J Hum Genet 46:857-873.
    • (1990) Amer J Hum Genet , vol.46 , pp. 857-873
    • Hall, J.G.1
  • 12
    • 0025914051 scopus 로고
    • Inherited ring chromosomes - An analysis of published cases
    • Kosztolányi G, Méhes K, Hook EB (1991): Inherited ring chromosomes - an analysis of published cases. Hum Genet 87:320-324.
    • (1991) Hum Genet , vol.87 , pp. 320-324
    • Kosztolányi, G.1    Méhes, K.2    Hook, E.B.3
  • 13
    • 0023134292 scopus 로고
    • Clinical manifestations of trisomy 5q
    • Kumar D, Heath PR, Blank CE (1987): Clinical manifestations of trisomy 5q. J Med Genet 24:180-184.
    • (1987) J Med Genet , vol.24 , pp. 180-184
    • Kumar, D.1    Heath, P.R.2    Blank, C.E.3
  • 15
    • 0026708985 scopus 로고
    • Simultaneous partial monosomy 10p and trisomy 5q in a case of hypoparathyroidism
    • Lai MMR, Scriven PN, Berry AC (1992): Simultaneous partial monosomy 10p and trisomy 5q in a case of hypoparathyroidism. J Med Genet 29:586-588.
    • (1992) J Med Genet , vol.29 , pp. 586-588
    • Lai, M.M.R.1    Scriven, P.N.2    Berry, A.C.3
  • 16
    • 2842584284 scopus 로고
    • Inherited microdeletion syndrome, due to loss of single bond 9q31.3: The continuing care for high resolution chromosome studies in unexplained mild mental retardation
    • Abstract
    • Magenis RE, Lahr M, Hafits-Borchardt VA, Lawce H, Wilson T (1989): Inherited microdeletion syndrome, due to loss of single bond 9q31.3: The continuing care for high resolution chromosome studies in unexplained mild mental retardation. Amer J Hum Genet 45 Suppl. A81, 314 (Abstract).
    • (1989) Amer J Hum Genet , vol.45 , Issue.SUPPL. A81 , pp. 314
    • Magenis, R.E.1    Lahr, M.2    Hafits-Borchardt, V.A.3    Lawce, H.4    Wilson, T.5
  • 18
    • 0028030175 scopus 로고
    • Deletion of (11)(q24.2) in a mother and daughter with similar phenotypes
    • Neavel CB, Soukup S (1994): Deletion of (11)(q24.2) in a mother and daughter with similar phenotypes. Am J Med Genet 53:321-324.
    • (1994) Am J Med Genet , vol.53 , pp. 321-324
    • Neavel, C.B.1    Soukup, S.2
  • 19
    • 0020057636 scopus 로고
    • Fetal manifestation of a chromosomal disorder: Partial duplication of the long arm of chromosome 5(5q33-qter)
    • Passarge E, Bartsch-Sandhoff M, Rehder H (1982): Fetal manifestation of a chromosomal disorder: Partial duplication of the long arm of chromosome 5(5q33-qter). Teratology 25:221-225.
    • (1982) Teratology , vol.25 , pp. 221-225
    • Passarge, E.1    Bartsch-Sandhoff, M.2    Rehder, H.3
  • 20
    • 0026785695 scopus 로고
    • Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardation
    • Pettenati MJ, Rao N, Johnson C, Hayworth R, Crandall K, Huff O, Thomad IT (1992): Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardation. Hum Genet 89:602-606.
    • (1992) Hum Genet , vol.89 , pp. 602-606
    • Pettenati, M.J.1    Rao, N.2    Johnson, C.3    Hayworth, R.4    Crandall, K.5    Huff, O.6    Thomad, I.T.7
  • 21
    • 0343319476 scopus 로고
    • Fluorescence in situ hybridization with human chromosome-specific libraries: Detection of trisomy 21 and translocations of chromosome 4
    • Pinkel D, Landegent J, Collins C, Fuscoe J, Segraves R, Lucas J, Gray J (1988): Fluorescence in situ hybridization with human chromosome-specific libraries: Detection of trisomy 21 and translocations of chromosome 4. Proc Natl Acad Sci USA 85:9138-9142.
    • (1988) Proc Natl Acad Sci USA , vol.85 , pp. 9138-9142
    • Pinkel, D.1    Landegent, J.2    Collins, C.3    Fuscoe, J.4    Segraves, R.5    Lucas, J.6    Gray, J.7
  • 24
    • 0002522630 scopus 로고
    • Isochromosomes and interstitial tandem direct and inverted duplications
    • Daniel A (ed): New York: Alan R. Liss, Inc.
    • Van Dyke DL (1988): Isochromosomes and interstitial tandem direct and inverted duplications. In Daniel A (ed): "The Cytogenetics of Mammalian Autosomal Rearrangements." New York: Alan R. Liss, Inc., pp 635-665.
    • (1988) The Cytogenetics of Mammalian Autosomal Rearrangements , pp. 635-665
    • Van Dyke, D.L.1
  • 25
    • 0021683727 scopus 로고
    • Interstitial deletion of the short arm of chromosome 5 in a mother and three children
    • Walker JL, Blank CE, Smith BAM (1984): Interstitial deletion of the short arm of chromosome 5 in a mother and three children. J Med Genet 21:465-167.
    • (1984) J Med Genet , vol.21 , pp. 465-1167
    • Walker, J.L.1    Blank, C.E.2    Smith, B.A.M.3
  • 26
    • 0020629324 scopus 로고
    • Fluorodeoxyuridine synchronisation of bone marrow cultures
    • Webber LM, Garson M (1983): Fluorodeoxyuridine synchronisation of bone marrow cultures. Cancer Genet Cytogenet 8:123-132.
    • (1983) Cancer Genet Cytogenet , vol.8 , pp. 123-132
    • Webber, L.M.1    Garson, M.2
  • 30
    • 0017888702 scopus 로고
    • Partial trisomy for short and long arm of chromosome 5
    • Zabel B, Baumann W, Gehler J, Conrad G (1978): Partial trisomy for short and long arm of chromosome 5. J Med Genet 15:143-147.
    • (1978) J Med Genet , vol.15 , pp. 143-147
    • Zabel, B.1    Baumann, W.2    Gehler, J.3    Conrad, G.4


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