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Volumn 53, Issue 1, 2010, Pages 45-49

An interstitial duplication of chromosome 13q31.3q32.1 further delineates the critical region for postaxial polydactyly type A2

Author keywords

Array CGH; Duplication 13q31q32; Postaxial polydactyly

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 13Q; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; FINGER MALFORMATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE EXPRESSION; GENE IDENTIFICATION; GPC5 GENE; GPC6 GENE; HUMAN; INFANT; MALE; PHENOTYPE; POLYDACTYLY; POSTAXIAL POLYDACTYLY TYPE A2; PRESCHOOL CHILD; SEQUENCE HOMOLOGY; SIMPSON GOLABI BEHMEL SYNDROME;

EID: 74149087846     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.11.003     Document Type: Article
Times cited : (20)

References (34)
  • 1
    • 0001359387 scopus 로고    scopus 로고
    • Mapping of the second locus of postaxial polydactyly type A(PAP-A2) to chromosome 13q21-q32. (Abstract)
    • Akarsu A.N., Ozbas F., and Kostakoglu N. Mapping of the second locus of postaxial polydactyly type A(PAP-A2) to chromosome 13q21-q32. (Abstract). Am. J. Hum. Genet. 61 Suppl. (1997) A265
    • (1997) Am. J. Hum. Genet. , vol.61 , Issue.SUPPL
    • Akarsu, A.N.1    Ozbas, F.2    Kostakoglu, N.3
  • 2
    • 34247517336 scopus 로고    scopus 로고
    • Misexpression of SOX9 in mouse limb bud mesenchyme induces polydactyly and rescues hypodactyly mice
    • Akiyama H., Stadler H.S., Martin J.F., Ishii T.M., Beachy P.A., Nakamura T., et al. Misexpression of SOX9 in mouse limb bud mesenchyme induces polydactyly and rescues hypodactyly mice. Matrix Biol. 26 (2007) 224-233
    • (2007) Matrix Biol. , vol.26 , pp. 224-233
    • Akiyama, H.1    Stadler, H.S.2    Martin, J.F.3    Ishii, T.M.4    Beachy, P.A.5    Nakamura, T.6
  • 4
    • 0034669139 scopus 로고    scopus 로고
    • Phylogeny of the SOX family of developmental transcription factors based on sequence and structural indicators
    • Bowles J., Schepers G., and Koopman P. Phylogeny of the SOX family of developmental transcription factors based on sequence and structural indicators. Dev. Biol. 227 (2000) 239-255
    • (2000) Dev. Biol. , vol.227 , pp. 239-255
    • Bowles, J.1    Schepers, G.2    Koopman, P.3
  • 5
    • 0027402372 scopus 로고
    • Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature
    • Brown S., Gersen S., Anyane-Yeboa K., and Warburton D. Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature. Am. J. Med. Genet. 45 (1993) 52-59
    • (1993) Am. J. Med. Genet. , vol.45 , pp. 52-59
    • Brown, S.1    Gersen, S.2    Anyane-Yeboa, K.3    Warburton, D.4
  • 6
    • 66449083531 scopus 로고    scopus 로고
    • Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia
    • Campos-Xavier A.B., Martinet D., Bateman J., Belluoccio D., Rowley L., Tan T.Y., et al. Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia. Am. J. Hum. Genet. 84 (2009) 760-770
    • (2009) Am. J. Hum. Genet. , vol.84 , pp. 760-770
    • Campos-Xavier, A.B.1    Martinet, D.2    Bateman, J.3    Belluoccio, D.4    Rowley, L.5    Tan, T.Y.6
  • 7
    • 33646098622 scopus 로고    scopus 로고
    • Trisomy 18 and Trisomy 13 syndromes
    • Cassidy S.B., and Allanson J.E. (Eds), Wiley-Liss, New York
    • Carey J.C. Trisomy 18 and Trisomy 13 syndromes. In: Cassidy S.B., and Allanson J.E. (Eds). Management of Genetic Syndromes (2005), Wiley-Liss, New York 555-568
    • (2005) Management of Genetic Syndromes , pp. 555-568
    • Carey, J.C.1
  • 8
    • 0036499525 scopus 로고    scopus 로고
    • Overgrowth of a mouse model of the Simpson-Golabi-Behmel syndrome is independent of IGF signaling
    • Chiao E., Fisher P., Crisponi L., Deiana M., Dragatsis I., Schlessinger D., et al. Overgrowth of a mouse model of the Simpson-Golabi-Behmel syndrome is independent of IGF signaling. Dev. Biol. 243 (2002) 185-206
    • (2002) Dev. Biol. , vol.243 , pp. 185-206
    • Chiao, E.1    Fisher, P.2    Crisponi, L.3    Deiana, M.4    Dragatsis, I.5    Schlessinger, D.6
  • 9
    • 0028135336 scopus 로고
    • Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
    • Foster J.W., Dominguez-Steglich M.A., Guioli S., Kowk G., Weller P.A., Stevanovic M., et al. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 372 (1994) 525-530
    • (1994) Nature , vol.372 , pp. 525-530
    • Foster, J.W.1    Dominguez-Steglich, M.A.2    Guioli, S.3    Kowk, G.4    Weller, P.A.5    Stevanovic, M.6
  • 12
    • 39049171403 scopus 로고    scopus 로고
    • Long-range gene control and genetic disease
    • Kleinjan D.A., and Lettice L.A. Long-range gene control and genetic disease. Adv. Genet. 61 (2008) 339-388
    • (2008) Adv. Genet. , vol.61 , pp. 339-388
    • Kleinjan, D.A.1    Lettice, L.A.2
  • 13
    • 0035425730 scopus 로고    scopus 로고
    • GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome
    • Li M., Shuman C., Fei Y.L., Cutiongco E., Bender H.A., Stevens C., et al. GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome. Am. J. Med. Genet. 102 (2001) 161-168
    • (2001) Am. J. Med. Genet. , vol.102 , pp. 161-168
    • Li, M.1    Shuman, C.2    Fei, Y.L.3    Cutiongco, E.4    Bender, H.A.5    Stevens, C.6
  • 14
    • 0032883195 scopus 로고    scopus 로고
    • The isolation and high-resolution chromosomal mapping of human SOX14 and SOX21; two members of the SOX gene family related to SOX1, SOX2, and SOX3. Mamm
    • Malas S., Duthie S., Deloukas P., and Episkopou V. The isolation and high-resolution chromosomal mapping of human SOX14 and SOX21; two members of the SOX gene family related to SOX1, SOX2, and SOX3. Mamm. Genome 10 (1999) 934-937
    • (1999) Genome , vol.10 , pp. 934-937
    • Malas, S.1    Duthie, S.2    Deloukas, P.3    Episkopou, V.4
  • 15
    • 0021330518 scopus 로고
    • Familial pericentric inversion (13) detected by antenatal diagnosis
    • Maltby E.L. Familial pericentric inversion (13) detected by antenatal diagnosis. J. Med. Genet. 21 (1984) 149-151
    • (1984) J. Med. Genet. , vol.21 , pp. 149-151
    • Maltby, E.L.1
  • 16
    • 33747054494 scopus 로고    scopus 로고
    • Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports
    • Menten B., Maas N., Thienpont B., Buysse K., Vandesompele J., Melotte C., et al. Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports. J. Med. Genet. 43 (2006) 625-633
    • (2006) J. Med. Genet. , vol.43 , pp. 625-633
    • Menten, B.1    Maas, N.2    Thienpont, B.3    Buysse, K.4    Vandesompele, J.5    Melotte, C.6
  • 17
    • 0019849451 scopus 로고
    • Complex balanced translocation of chromosomes 2, 3, and 13
    • Muneer R.S., Donaldson D.L., and Rennert O.M. Complex balanced translocation of chromosomes 2, 3, and 13. Hum. Genet. 59 (1981) 182-184
    • (1981) Hum. Genet. , vol.59 , pp. 182-184
    • Muneer, R.S.1    Donaldson, D.L.2    Rennert, O.M.3
  • 18
    • 0025884462 scopus 로고
    • Partial trisomy 13q resulting from a paternal reciprocal Yq;13q translocation
    • Nikolis J., Ivanovic K., and Diklic V. Partial trisomy 13q resulting from a paternal reciprocal Yq;13q translocation. J. Med. Genet. 28 (1991) 425-426
    • (1991) J. Med. Genet. , vol.28 , pp. 425-426
    • Nikolis, J.1    Ivanovic, K.2    Diklic, V.3
  • 19
    • 0033135066 scopus 로고    scopus 로고
    • GPC6, a novel member of the glypican gene family, encodes a product structurally related to GPC4 and is colocalized with GPC5 on human chromosome 13
    • Paine-Saunders S., Viviano B.L., and Saunders S. GPC6, a novel member of the glypican gene family, encodes a product structurally related to GPC4 and is colocalized with GPC5 on human chromosome 13. Genomics 57 (1999) 455-458
    • (1999) Genomics , vol.57 , pp. 455-458
    • Paine-Saunders, S.1    Viviano, B.L.2    Saunders, S.3
  • 20
    • 0034284766 scopus 로고    scopus 로고
    • Glypican-3 controls cellular responses to Bmp4 in limb patterning and skeletal development
    • Paine-Saunders S., Viviano B.L., Zupicich J., Skarnes W.C., and Saunders S. Glypican-3 controls cellular responses to Bmp4 in limb patterning and skeletal development. Dev. Biol. 225 (2000) 179-187
    • (2000) Dev. Biol. , vol.225 , pp. 179-187
    • Paine-Saunders, S.1    Viviano, B.L.2    Zupicich, J.3    Skarnes, W.C.4    Saunders, S.5
  • 21
    • 0020585957 scopus 로고
    • Familial inversion translocation (8;13) with partial trisomy 13 in several family members
    • Pilgaard B., Jorgensen E., Knudsen V.S., Mortensen E., and Mikkelsen M. Familial inversion translocation (8;13) with partial trisomy 13 in several family members. Eur. J. Pediatr. 140 (1983) 105-108
    • (1983) Eur. J. Pediatr. , vol.140 , pp. 105-108
    • Pilgaard, B.1    Jorgensen, E.2    Knudsen, V.S.3    Mortensen, E.4    Mikkelsen, M.5
  • 22
    • 13344261391 scopus 로고    scopus 로고
    • Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome
    • Pilia G., Hughes-Benzie R.M., MacKenzie A., Baybayan P., Chen E.Y., Huber R., et al. Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. Nat. Genet. 12 (1996) 241-247
    • (1996) Nat. Genet. , vol.12 , pp. 241-247
    • Pilia, G.1    Hughes-Benzie, R.M.2    MacKenzie, A.3    Baybayan, P.4    Chen, E.Y.5    Huber, R.6
  • 23
    • 0018813167 scopus 로고
    • Two reciprocal translocations t(9p+;13q-) and t(13q-;21q+): a study of the families
    • Prieto F., Badia L., Asensi F., and Roques V. Two reciprocal translocations t(9p+;13q-) and t(13q-;21q+): a study of the families. Hum. Genet. 54 (1980) 7-11
    • (1980) Hum. Genet. , vol.54 , pp. 7-11
    • Prieto, F.1    Badia, L.2    Asensi, F.3    Roques, V.4
  • 24
    • 0033362154 scopus 로고    scopus 로고
    • The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations
    • Radhakrishna U., Bornholdt D., Scott H.S., Patel U.C., Rossier C., Engel H., et al. The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations. Am. J. Hum. Genet. 65 (1999) 645-655
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 645-655
    • Radhakrishna, U.1    Bornholdt, D.2    Scott, H.S.3    Patel, U.C.4    Rossier, C.5    Engel, H.6
  • 26
    • 0021338821 scopus 로고
    • Clinical delineation of proximal and distal partial 13q trisomy
    • Rogers J.F. Clinical delineation of proximal and distal partial 13q trisomy. Clin. Genet. 25 (1984) 221-229
    • (1984) Clin. Genet. , vol.25 , pp. 221-229
    • Rogers, J.F.1
  • 27
    • 40849097556 scopus 로고    scopus 로고
    • Developmental glaucoma with chromosomal abnormalities of 9p deletion and 13q duplication
    • Sakata R., Usui T., Mimaki M., and Araie M. Developmental glaucoma with chromosomal abnormalities of 9p deletion and 13q duplication. Arch. Ophthalmol. 126 (2008) 431-432
    • (2008) Arch. Ophthalmol. , vol.126 , pp. 431-432
    • Sakata, R.1    Usui, T.2    Mimaki, M.3    Araie, M.4
  • 28
    • 0031259923 scopus 로고    scopus 로고
    • Expression of the cell surface proteoglycan glypican-5 is developmentally regulated in kidney, limb, and brain
    • Saunders S., Paine-Saunders S., and Lander A.D. Expression of the cell surface proteoglycan glypican-5 is developmentally regulated in kidney, limb, and brain. Dev. Biol. 190 (1997) 78-93
    • (1997) Dev. Biol. , vol.190 , pp. 78-93
    • Saunders, S.1    Paine-Saunders, S.2    Lander, A.D.3
  • 29
    • 0022485326 scopus 로고
    • Phenotype-karyotype correlation in patients trisomic for various segments of chromosome 13
    • Tharapel S.A., Lewandowski R.C., Tharapel A.T., and Wilroy Jr. R.S. Phenotype-karyotype correlation in patients trisomic for various segments of chromosome 13. J. Med. Genet. 23 (1986) 310-315
    • (1986) J. Med. Genet. , vol.23 , pp. 310-315
    • Tharapel, S.A.1    Lewandowski, R.C.2    Tharapel, A.T.3    Wilroy Jr., R.S.4
  • 30
    • 0033578871 scopus 로고    scopus 로고
    • Glypican-6, a new member of the glypican family of cell surface heparan sulfate proteoglycans
    • Veugelers M., De Cat B., Ceulemans H., Bruystens A.M., Coomans C., Durr J., et al. Glypican-6, a new member of the glypican family of cell surface heparan sulfate proteoglycans. J. Biol. Chem. 274 (1999) 26968-26977
    • (1999) J. Biol. Chem. , vol.274 , pp. 26968-26977
    • Veugelers, M.1    De Cat, B.2    Ceulemans, H.3    Bruystens, A.M.4    Coomans, C.5    Durr, J.6
  • 31
    • 0031568877 scopus 로고    scopus 로고
    • Characterization of glypican-5 and chromosomal localization of human GPC5, a new member of the glypican gene family
    • Veugelers M., Vermeesch J., Reekmans G., Steinfeld R., Marynen P., and David G. Characterization of glypican-5 and chromosomal localization of human GPC5, a new member of the glypican gene family. Genomics 40 (1997) 24-30
    • (1997) Genomics , vol.40 , pp. 24-30
    • Veugelers, M.1    Vermeesch, J.2    Reekmans, G.3    Steinfeld, R.4    Marynen, P.5    David, G.6
  • 32
    • 0032191961 scopus 로고    scopus 로고
    • GPC4, the gene for human K-glypican, flanks GPC3 on xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome
    • Veugelers M., Vermeesch J., Watanabe K., Yamaguchi Y., Marynen P., and David G. GPC4, the gene for human K-glypican, flanks GPC3 on xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome. Genomics 53 (1998) 1-11
    • (1998) Genomics , vol.53 , pp. 1-11
    • Veugelers, M.1    Vermeesch, J.2    Watanabe, K.3    Yamaguchi, Y.4    Marynen, P.5    David, G.6
  • 33
    • 0028589588 scopus 로고
    • Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9
    • Wagner T., Wirth J., Meyer J., Zabel B., Held M., Zimmer J., et al. Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell 79 (1994) 1111-1120
    • (1994) Cell , vol.79 , pp. 1111-1120
    • Wagner, T.1    Wirth, J.2    Meyer, J.3    Zabel, B.4    Held, M.5    Zimmer, J.6
  • 34
    • 85047695255 scopus 로고    scopus 로고
    • Postaxial polydactyly type A/B (PAP-A/B) is linked to chromosome 19p13.1-13.2 in a Chinese kindred
    • Zhao H., Tian Y., Breedveld G., Huang S., Zou Y., Y J., et al. Postaxial polydactyly type A/B (PAP-A/B) is linked to chromosome 19p13.1-13.2 in a Chinese kindred. Eur. J. Hum. Genet. 10 (2002) 162-166
    • (2002) Eur. J. Hum. Genet. , vol.10 , pp. 162-166
    • Zhao, H.1    Tian, Y.2    Breedveld, G.3    Huang, S.4    Zou, Y.5    Y, J.6


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