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Volumn 162, Issue 9, 2003, Pages 582-588

A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature

Author keywords

Complex chromosomal rearrangements; Fluorescence in situ hybridisation; Molecular cytogenetics; Multicolour banding; Multicolour fluorescence in situ hybridisation

Indexed keywords

ADOLESCENT; ARTICLE; BEHAVIOR DISORDER; CASE REPORT; CHROMOSOME 11; CHROMOSOME 2; CHROMOSOME 4; CYTOGENETICS; DYSPLASIA; EAR MALFORMATION; ECHOCARDIOGRAPHY; ECHOGRAPHY; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE TRANSLOCATION; GIEMSA STAIN; GIGANTISM; HEXADACTYLY; HUMAN; KARYOTYPE 46,XX; MENTAL DEFICIENCY; MOLECULAR BIOLOGY; MULTIPLE MALFORMATION SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SPEECH DEVELOPMENT;

EID: 10744222635     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-003-1254-3     Document Type: Article
Times cited : (5)

References (60)
  • 1
    • 0033776316 scopus 로고    scopus 로고
    • FISHing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes
    • Ballif BC, Kashork CD, Shaffer LG (2000) FISHing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes. Eur J Hum Genet 8: 764-770
    • (2000) Eur J Hum Genet , vol.8 , pp. 764-770
    • Ballif, B.C.1    Kashork, C.D.2    Shaffer, L.G.3
  • 4
    • 0035680829 scopus 로고    scopus 로고
    • Detection of an unbalanced t(4;15) by FISH in a child with multiple congenital anomalies
    • Celep F, Acar H, Aynaci O, Aynaci FM, Karaguzel A (2001) Detection of an unbalanced t(4;15) by FISH in a child with multiple congenital anomalies. Genet Couns 12: 319-326
    • (2001) Genet Couns , vol.12 , pp. 319-326
    • Celep, F.1    Acar, H.2    Aynaci, O.3    Aynaci, F.M.4    Karaguzel, A.5
  • 5
    • 0033053010 scopus 로고    scopus 로고
    • High resolution multicolor banding: A new technique for refined FISH analysis of human chromosomes
    • Chudoba I, Plesch A, Lörch T, Lemke J, Claussen U, Senger G (1999) High resolution multicolor banding: a new technique for refined FISH analysis of human chromosomes. Cytogenet Cell Genet 84: 156-160
    • (1999) Cytogenet Cell Genet , vol.84 , pp. 156-160
    • Chudoba, I.1    Plesch, A.2    Lörch, T.3    Lemke, J.4    Claussen, U.5    Senger, G.6
  • 7
    • 0036135524 scopus 로고    scopus 로고
    • Maternal complex chromosome rearrangement ascertained through a del (13)(q12.1q14.1) detected in her mildly affected daughter
    • Drummond-Borg M, Kulharya AS, Tonk V, Garcia-Heras J (2002) Maternal complex chromosome rearrangement ascertained through a del (13)(q12.1q14.1) detected in her mildly affected daughter. Am J Med Genet 107: 61-63
    • (2002) Am J Med Genet , vol.107 , pp. 61-63
    • Drummond-Borg, M.1    Kulharya, A.S.2    Tonk, V.3    Garcia-Heras, J.4
  • 9
    • 0034887978 scopus 로고    scopus 로고
    • Partial tetrasomy 12pter-12p12.3 in a girl with Pallister-Killian syndrome: Extraordinary finding of an analphoid, inverted duplicated marker
    • Dufke A, Walczak C, Liehr T, Starke H, Trifonov V, Rubtsov N, Schöning M, Enders H, Eggermann T (2001a) Partial tetrasomy 12pter-12p12.3 in a girl with Pallister-Killian syndrome: extraordinary finding of an analphoid, inverted duplicated marker. Eur J Hum Genet 9: 572-576
    • (2001) Eur J Hum Genet , vol.9 , pp. 572-576
    • Dufke, A.1    Walczak, C.2    Liehr, T.3    Starke, H.4    Trifonov, V.5    Rubtsov, N.6    Schöning, M.7    Enders, H.8    Eggermann, T.9
  • 10
    • 0034859603 scopus 로고    scopus 로고
    • Unusual chromosomal mosaicism as a cause of mental retardation and congenital malformations in a familial reciprocal translocation carrier, t(17;22)(q24.2;q11.23)
    • Dufke A, Mayrhofer H, Enders H, Kaiser P, Leipoldt M (2001b) Unusual chromosomal mosaicism as a cause of mental retardation and congenital malformations in a familial reciprocal translocation carrier, t(17;22)(q24.2;q11.23). Cytogenet Cell Genet 93: 168-170
    • (2001) Cytogenet Cell Genet , vol.93 , pp. 168-170
    • Dufke, A.1    Mayrhofer, H.2    Enders, H.3    Kaiser, P.4    Leipoldt, M.5
  • 12
    • 0035746692 scopus 로고    scopus 로고
    • Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric probes
    • Fan YS, Zhang Y, Speevak M, Farrell S, Jung JH, Siu VM (2001) Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric probes. Genet Med 3: 416-421
    • (2001) Genet Med , vol.3 , pp. 416-421
    • Fan, Y.S.1    Zhang, Y.2    Speevak, M.3    Farrell, S.4    Jung, J.H.5    Siu, V.M.6
  • 13
    • 0035935629 scopus 로고    scopus 로고
    • FISH characterization of a supernumerary (r(1)(::cen - >q22::q22 - >sq21::) chromosome associated with multiple anomalies and bilateral cataracts
    • Finelli P, Cavalli P, Giardino D, Gottardi G, Natacci F, Savasta S, Larizza L (2001) FISH characterization of a supernumerary (r(1)(::cen - >q22::q22 - >sq21::) chromosome associated with multiple anomalies and bilateral cataracts. Am J Med Genet 104: 157-164
    • (2001) Am J Med Genet , vol.104 , pp. 157-164
    • Finelli, P.1    Cavalli, P.2    Giardino, D.3    Gottardi, G.4    Natacci, F.5    Savasta, S.6    Larizza, L.7
  • 17
    • 0035871057 scopus 로고    scopus 로고
    • Association between tryptophan hydroxylase gene polymorphism (A218C) and schizophrenic disorders
    • Hong CJ, Tsai SJ, Wang YC (2001) Association between tryptophan hydroxylase gene polymorphism (A218C) and schizophrenic disorders. Schizophr Res 49: 59-63
    • (2001) Schizophr Res , vol.49 , pp. 59-63
    • Hong, C.J.1    Tsai, S.J.2    Wang, Y.C.3
  • 18
    • 0032104235 scopus 로고    scopus 로고
    • A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene
    • Jain PK, Lalwani AK, Li XC, Singleton TL, Smith TN, Chen A, Deshmukh D, Verma IC, Smith RJ, Wilcox ER (1998) A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene. Genomics 50: 290-292
    • (1998) Genomics , vol.50 , pp. 290-292
    • Jain, P.K.1    Lalwani, A.K.2    Li, X.C.3    Singleton, T.L.4    Smith, T.N.5    Chen, A.6    Deshmukh, D.7    Verma, I.C.8    Smith, R.J.9    Wilcox, E.R.10
  • 21
    • 0033785455 scopus 로고    scopus 로고
    • Comparative genomic hybridization: Uses and limitations
    • Lichter P, Joos S, Benzt M, Lampel S (2000) Comparative genomic hybridization: uses and limitations. Semin Hematol 37: 348-357
    • (2000) Semin Hematol , vol.37 , pp. 348-357
    • Lichter, P.1    Joos, S.2    Benzt, M.3    Lampel, S.4
  • 22
    • 0036259843 scopus 로고    scopus 로고
    • Multicolor-FISH approaches for the characterization of human chromosomes in clinical genetics and tumor cytogenetics
    • Liehr T, Claussen U (2002) Multicolor-FISH approaches for the characterization of human chromosomes in clinical genetics and tumor cytogenetics. Curr Genom 3: 213-235
    • (2002) Curr Genom , vol.3 , pp. 213-235
    • Liehr, T.1    Claussen, U.2
  • 24
    • 0036080006 scopus 로고    scopus 로고
    • FISH banding methods: Applications in research and diagnostics
    • Liehr T, Heller A, Starke H, Claussen U (2002) FISH banding methods: applications in research and diagnostics. Expert Rev Mol Diagn 2: 217-225
    • (2002) Expert Rev Mol Diagn , vol.2 , pp. 217-225
    • Liehr, T.1    Heller, A.2    Starke, H.3    Claussen, U.4
  • 27
    • 0037157779 scopus 로고    scopus 로고
    • Mosaic r(13) resulting in large deletion of chromosome 13q in a newborn female with multiple congenital anomalies
    • Lorentz CP, Jalal SM, Thompson DM, Babovic-Vuksanovic D (2002) Mosaic r(13) resulting in large deletion of chromosome 13q in a newborn female with multiple congenital anomalies. Am J Med Genet 111: 61-67
    • (2002) Am J Med Genet , vol.111 , pp. 61-67
    • Lorentz, C.P.1    Jalal, S.M.2    Thompson, D.M.3    Babovic-Vuksanovic, D.4
  • 28
    • 0035281524 scopus 로고    scopus 로고
    • CHARGE association with choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t(2;7)(p14;q21.11)
    • Martin DM, Sheldon S, Gorski JL (2001) CHARGE association with choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t(2;7)(p14;q21.11). Am J Med Genet 99: 115-119
    • (2001) Am J Med Genet , vol.99 , pp. 115-119
    • Martin, D.M.1    Sheldon, S.2    Gorski, J.L.3
  • 30
    • 0029811054 scopus 로고    scopus 로고
    • Molecular analysis by fluorescence in situ hybridization of a prenatally detected de novo complex chromosomal rearrangement t(2q;3p;4q;13q)
    • Mercier S, Fellmann F, Cattin J, Bresson JL (1996) Molecular analysis by fluorescence in situ hybridization of a prenatally detected de novo complex chromosomal rearrangement t(2q;3p;4q;13q). Prenat Diagn 16: 1046-1050
    • (1996) Prenat Diagn , vol.16 , pp. 1046-1050
    • Mercier, S.1    Fellmann, F.2    Cattin, J.3    Bresson, J.L.4
  • 32
    • 0030908305 scopus 로고    scopus 로고
    • Deletion 4q21/4q22 syndrome: Two patients with de novo 4q21.3q23 and 4q13.2q23deletions
    • Nowaczyk MJ, Teshima IE, Siegel-Bartelt J, Clarke JT (1997) Deletion 4q21/4q22 syndrome: two patients with de novo 4q21.3q23 and 4q13.2q23deletions. Am J Med Genet 69: 400-405
    • (1997) Am J Med Genet , vol.69 , pp. 400-405
    • Nowaczyk, M.J.1    Teshima, I.E.2    Siegel-Bartelt, J.3    Clarke, J.T.4
  • 33
    • 0036532239 scopus 로고    scopus 로고
    • Girl with combined cellular immunodeficiency, pancytopenia, malformations, deletion 11q23.3 →qter, and trisomy 8q24.3 →qter
    • Ounap K, Bartsch O, Uibo O, Laidre P (2002) Girl with combined cellular immunodeficiency, pancytopenia, malformations, deletion 11q23.3 →qter, and trisomy 8q24.3 →qter. Am J Med Genet 108: 322-326
    • (2002) Am J Med Genet , vol.108 , pp. 322-326
    • Ounap, K.1    Bartsch, O.2    Uibo, O.3    Laidre, P.4
  • 34
    • 0022446922 scopus 로고
    • Cytogenetic analysis using quantitative, high sensitivity, fluorescence hybridization
    • Pinkel D, Straume T, Gray JW (1986) Cytogenetic analysis using quantitative, high sensitivity, fluorescence hybridization. Proc Natl Acad Sci USA 83: 2934-2938
    • (1986) Proc Natl Acad Sci USA , vol.83 , pp. 2934-2938
    • Pinkel, D.1    Straume, T.2    Gray, J.W.3
  • 36
    • 0032054079 scopus 로고    scopus 로고
    • Complex familial rearrangement of chromosome 9p24.3 detected by FISH
    • Repetto GM, Wagstaff J, Korf BR, Knoll JH (1998) Complex familial rearrangement of chromosome 9p24.3 detected by FISH. Am J Med Genet 76: 306-309
    • (1998) Am J Med Genet , vol.76 , pp. 306-309
    • Repetto, G.M.1    Wagstaff, J.2    Korf, B.R.3    Knoll, J.H.4
  • 37
    • 0034809237 scopus 로고    scopus 로고
    • Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes
    • Riegel M, Baumer A, Jamar M, Delbecque K, Herens C, Verloes A, Schinzel A (2001a) Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes. Hum Genet 109: 286-294
    • (2001) Hum Genet , vol.109 , pp. 286-294
    • Riegel, M.1    Baumer, A.2    Jamar, M.3    Delbecque, K.4    Herens, C.5    Verloes, A.6    Schinzel, A.7
  • 38
    • 0035882479 scopus 로고    scopus 로고
    • Distal deletion, del(2)(q33.3q33.3), in a patient with severe growth deficiency and minor anomalies
    • Riegel M, Morava E, Czako M, Kosztolanyi G, Schinzel A (2001b) Distal deletion, del(2)(q33.3q33.3), in a patient with severe growth deficiency and minor anomalies. Am J Med Genet 102: 227-230
    • (2001) Am J Med Genet , vol.102 , pp. 227-230
    • Riegel, M.1    Morava, E.2    Czako, M.3    Kosztolanyi, G.4    Schinzel, A.5
  • 41
    • 0035339659 scopus 로고    scopus 로고
    • New concepts to improve resolution and sensitivity of molecular cytogenetic diagnostics by multicolor fluorescence in situ hybridization
    • Saracoglu K, Brown J, Kearney L, Uhrig S, Azofeifa J, Fauth C, Speicher MR, Eils R (2001) New concepts to improve resolution and sensitivity of molecular cytogenetic diagnostics by multicolor fluorescence in situ hybridization. Cytometry 44: 7-15
    • (2001) Cytometry , vol.44 , pp. 7-15
    • Saracoglu, K.1    Brown, J.2    Kearney, L.3    Uhrig, S.4    Azofeifa, J.5    Fauth, C.6    Speicher, M.R.7    Eils, R.8
  • 44
    • 0001242948 scopus 로고    scopus 로고
    • Multicolor-FISH: The identification of chromosome aberrations by 24 colors
    • Senger G, Chudoba I, Plesch A (1998) Multicolor-FISH: the identification of chromosome aberrations by 24 colors. Bioforum 9: 499-503
    • (1998) Bioforum , vol.9 , pp. 499-503
    • Senger, G.1    Chudoba, I.2    Plesch, A.3
  • 45
    • 0029929917 scopus 로고    scopus 로고
    • Identification of a subtle chromosomal translocation in a family with recurrent miscarriages and a child with multiple congenital anomalies. A case report
    • Shaffer LG, Spikes AS, Macha M, Dunn R (1996) Identification of a subtle chromosomal translocation in a family with recurrent miscarriages and a child with multiple congenital anomalies. A case report. J Reprod Med 41: 367-371
    • (1996) J Reprod Med , vol.41 , pp. 367-371
    • Shaffer, L.G.1    Spikes, A.S.2    Macha, M.3    Dunn, R.4
  • 49
    • 0033066915 scopus 로고    scopus 로고
    • Molecular cytogenetic techniques for the diagnosis of chromosomal abnormalities in childhood disease
    • Stumm M, Tönnies H, Wieacker PF (1999) Molecular cytogenetic techniques for the diagnosis of chromosomal abnormalities in childhood disease. Eur J Pediatr 158: 531-536
    • (1999) Eur J Pediatr , vol.158 , pp. 531-536
    • Stumm, M.1    Tönnies, H.2    Wieacker, P.F.3
  • 50
    • 0034840314 scopus 로고    scopus 로고
    • De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probes
    • Tönnies H, Schulze I, Hennies H, Neumann LM, Keitzer R, Neitzel H (2001a) De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probes. J Med Genet 38:617-621
    • (2001) J Med Genet , vol.38 , pp. 617-621
    • Tönnies, H.1    Schulze, I.2    Hennies, H.3    Neumann, L.M.4    Keitzer, R.5    Neitzel, H.6
  • 51
    • 0034875244 scopus 로고    scopus 로고
    • Comparative genomic hybridization based strategy for the analysis of different chromosome imbalances detected in conventional cytogenetic diagnostics
    • Tönnies H, Stumm M, Wegner RD, Chudoba I, Kalscheuer V, Neitzel H (2001b) Comparative genomic hybridization based strategy for the analysis of different chromosome imbalances detected in conventional cytogenetic diagnostics. Cytogenet Cell Genet 93: 188-194
    • (2001) Cytogenet Cell Genet , vol.93 , pp. 188-194
    • Tönnies, H.1    Stumm, M.2    Wegner, R.D.3    Chudoba, I.4    Kalscheuer, V.5    Neitzel, H.6
  • 58
    • 0030745898 scopus 로고    scopus 로고
    • Interstitial deletion 2(p11.2p13): A rare chromosomal abnormality
    • Wenger SL, McPherson EW (1997) Interstitial deletion 2(p11.2p13): a rare chromosomal abnormality. Clin Genet 52: 61-62
    • (1997) Clin Genet , vol.52 , pp. 61-62
    • Wenger, S.L.1    McPherson, E.W.2
  • 59
    • 0034968407 scopus 로고    scopus 로고
    • Spectral karyotyping study of chromosome abnormalities in human leukemia
    • Zhao L, Hayes K, Khan Z, Glassman A (2001) Spectral karyotyping study of chromosome abnormalities in human leukemia. Cancer Genet Cytogenet 127: 143-147
    • (2001) Cancer Genet Cytogenet , vol.127 , pp. 143-147
    • Zhao, L.1    Hayes, K.2    Khan, Z.3    Glassman, A.4
  • 60
    • 0029005848 scopus 로고
    • Further contribution to the description of phenotypes associated with partial 4q duplication
    • Zollino M, Zampino G, Torrioli G, Pomponi MG, Neri G (1995) Further contribution to the description of phenotypes associated with partial 4q duplication. Am J Med Genet 57: 69-73
    • (1995) Am J Med Genet , vol.57 , pp. 69-73
    • Zollino, M.1    Zampino, G.2    Torrioli, G.3    Pomponi, M.G.4    Neri, G.5


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