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1. Pujana, MA; Nadal, M; Gratacos, M; Peral, B; Csiszar, K; Gonzalez-Sarmiento, R; Sumoy, L; Estivill, X
   Additional complexity on human chromosome 15q: Identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26
   GENOME RESEARCH
   
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2. Smeets, E; Vandenbossche, L; Fryns, JP
   Partial distal trisomy 3p. A partial autosomal trisomy without major dysmorphic features
   GENETIC COUNSELING
   
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3. Bartsch, C; Aslan, M; Kohler, J; Miny, P; Horst, J; Holzgreve, W; Rehder, H; Fritz, B
   Duplication dup(1)(q32q44) detected by comparative genomic hybridization (CGH): Further delineation of trisomies 1q
   FETAL DIAGNOSIS AND THERAPY
   
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4. Petek, E; Kostl, G; Rauter, L; Mutz, I; Wagner, K; Kroisel, PM
   Molecular cytogenetics and phenotype characterization of a de novo pure partial trisomy 10(q24.33-qter)
   CLINICAL DYSMORPHOLOGY
   
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5. Vinkesteijn, ASM; Jansen, CLR; Los, FJ; Mulder, PGH; Wladimiroff, JW
   Fetal transcerebellar diameter and chromosomal abnormalities
   ULTRASOUND IN OBSTETRICS & GYNECOLOGY
   
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6. Courtens, W; Vroman, S; Vandenhove, J; Wiedemann, U; Schinzel, A
   Pre- and perinatal findings in partial trisomy 7q resulting from balanced parental translocations t(7;21) and t(4;7)
   PRENATAL DIAGNOSIS
   
   W. Courtens et al., "Pre- and perinatal findings in partial trisomy 7q resulting from balanced parental translocations t(7;21) and t(4;7)", PRENAT DIAG, 21(8), 2001, pp. 642-648
7. Morrissette, JJD; Celle, L; Owens, NL; Shields, CL; Zackai, EH; Spinner, NB
   Boy with bilateral retinoblastoma due to an unusual ring chromosome 13 with activation of a latent centromere
   AMERICAN JOURNAL OF MEDICAL GENETICS
   
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8. Engelen, JJM; Marcelis, CLM; Alofs, MGP; Loneus, WH; Pulles-Heintzberger, CFM; Hamers, AJH
   Brief clinical report - De novo "pure" partial trisomy (6)(p22.1 -> pter) in a chromosome 15 with an enlarged satellite, identified by microdissection
   AMERICAN JOURNAL OF MEDICAL GENETICS
   
   J.J.M. Engelen et al., "Brief clinical report - De novo "pure" partial trisomy (6)(p22.1 -> pter) in a chromosome 15 with an enlarged satellite, identified by microdissection", AM J MED G, 99(1), 2001, pp. 48-53
9. Wolpert, CM; Donnelly, SL; Cuccaro, ML; Hedges, DJ; Poole, CP; Wright, HH; Gilbert, JR; Pericak-Vance, MA
   De novo partial duplication of chromosome 7p in a male with autistic disorder
   AMERICAN JOURNAL OF MEDICAL GENETICS
   
   C.M. Wolpert et al., "De novo partial duplication of chromosome 7p in a male with autistic disorder", AM J MED G, 105(3), 2001, pp. 222-225
10. Emberger, W; Petek, E; Kroisel, PM; Zierler, H; Wagner, K
    Clinical and molecular cytogenetic characterization of two patients with partial trisomy 1q41-qter: Further delineation of partial trisomy 1q syndrome
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
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11. De Brasi, D; Rossi, E; Giglio, S; D'Agostino, A; Titomanlio, L; Farina, V; Andria, G; Sebastio, G
    Inv dup del (1)(pter -> q44 :: q44 -> q42 :) with the classical phenotype of trisomy 1q42-qter
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
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12. Velagaleti, GVN; Lockhart, LH; Schmalstieg, FC; Goldman, AS
    Trisomy 4 pter-q12 and monosomy of chromosome 13 pter-q12 in a male with deficiency of all blood lymphocyte populations
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
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13. Sutcliffe, MJ; Mueller, OT; Kousseff, BG; Dumont, DP; McFarland, JA; Mawani, F; Conforto, D; Ranells, JD
    Three cell line mosaicism involving structural and numerical abnormalitiesof chromosome 18 in a 3.5-year-old girl: 47,XX,+18/47,XX,+del(18)(q22)/46,XX
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
    M.J. Sutcliffe et al., "Three cell line mosaicism involving structural and numerical abnormalitiesof chromosome 18 in a 3.5-year-old girl: 47,XX,+18/47,XX,+del(18)(q22)/46,XX", AM J MED G, 102(2), 2001, pp. 192-199
14. Hirshfeld, AB; Thompson, WR; Patel, A; Boone, LB; Murphy, AM
    Proximal trisomy of 1q mosaicism in a girl with hypertrophic cardiomyopathy associated with Wolff-Parkinson-White syndrome and multiple congenital anomalies
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
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15. Baruch, AC; Erickson, RP
    Axenfeld-Rieger anomaly, hypertelorism, clinodactyly, and cardiac anomalies in sibs with an unbalanced translocation der(6)t(6;8)
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
    A.C. Baruch e R.P. Erickson, "Axenfeld-Rieger anomaly, hypertelorism, clinodactyly, and cardiac anomalies in sibs with an unbalanced translocation der(6)t(6;8)", AM J MED G, 100(3), 2001, pp. 187-190
16. Bird, LM; Mascarello, JT
    Chromosome 2q duplications: Case report of a de novo interstitial duplication and review of the literature
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
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17. Stankiewicz, P; Park, SS; Holder, SE; Waters, CS; Palmer, RW; Berend, SA; Shaffer, LG; Potocki, L; Lupski, JR
    Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derivedfrom chromosome 17: molecular analysis and delineation of the phenotype
    CLINICAL GENETICS
    
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18. Back, E; Toder, R; Fuchshuber, A
    De novo inverted duplication of chromosome 7(q21.3 -> q35): cytogenetic diagnosis confirmed by FISH analysis
    CLINICAL GENETICS
    
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19. Rigola, MA; Carrera, M; Ribas, I; De La Iglesia, C; Mendez, B; Egozcue, J; Fuster, C
    Identification of two de novo partial trisomies by comparative genomic hybridization
    CLINICAL GENETICS
    
    M.A. Rigola et al., "Identification of two de novo partial trisomies by comparative genomic hybridization", CLIN GENET, 59(2), 2001, pp. 106-110
20. Sabaratnam, M; Turk, J; Vroegop, P
    Case report: autistic disorder and chromosomal abnormality 46, XX duplication (4) p12-p13
    EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
    
    M. Sabaratnam et al., "Case report: autistic disorder and chromosomal abnormality 46, XX duplication (4) p12-p13", EUR CHILD A, 9(4), 2000, pp. 307-311
21. Tuysuz, B; Hacihanefioglu, S; Silahtaroglu, A; Yilmaz, S; Deviren, A; Cenani, A
    Two cases of partial trisomy 10q syndrome due to a familial 10;20 translocation
    GENETIC COUNSELING
    
    B. Tuysuz et al., "Two cases of partial trisomy 10q syndrome due to a familial 10;20 translocation", GEN COUNSEL, 11(4), 2000, pp. 355-361
22. Cora, T; Acar, H; Oran, B
    A partial trisomy 15q due to 15;17 translocation detected by conventional cytogenetic and FISH techniques
    GENETIC COUNSELING
    
    T. Cora et al., "A partial trisomy 15q due to 15;17 translocation detected by conventional cytogenetic and FISH techniques", GEN COUNSEL, 11(1), 2000, pp. 25-32
23. Van Hemel, JO; Eussen, HJ
    Interchromosomal insertions - Identification of five cases and a review
    HUMAN GENETICS
    
    J.O. Van Hemel e H.J. Eussen, "Interchromosomal insertions - Identification of five cases and a review", HUM GENET, 107(5), 2000, pp. 415-432
24. Tercanli, S; Hosli, I; Berlinger, A; Beyer, R; Achermann, J; Holzgreve, W
    Prenatal diagnosis of a partial trisomy 19q
    PRENATAL DIAGNOSIS
    
    S. Tercanli et al., "Prenatal diagnosis of a partial trisomy 19q", PRENAT DIAG, 20(8), 2000, pp. 663-665
25. Petek, E; Wagner, K; Steiner, H; Schaffer, H; Kroisel, PM
    Prenatal diagnosis of partial trisomy 4q26-qter and monosomy for the Wolf-Hirschhorn critical region in a fetus with split hand malformation
    PRENATAL DIAGNOSIS
    
    E. Petek et al., "Prenatal diagnosis of partial trisomy 4q26-qter and monosomy for the Wolf-Hirschhorn critical region in a fetus with split hand malformation", PRENAT DIAG, 20(4), 2000, pp. 349-352
26. von Kaisenberg, CS; Caliebe, A; Krams, M; Hackeloer, BJ; Jonat, W
    Absence of 9q22-9qter in trisomy 9 does not prevent a Dandy-Walker phenotype
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
    C.S. von Kaisenberg et al., "Absence of 9q22-9qter in trisomy 9 does not prevent a Dandy-Walker phenotype", AM J MED G, 95(5), 2000, pp. 425-428
27. Pierpont, MEM; Hentges, AS; Gears, LJ; Hirsch, B; Sinaiko, A
    Unbalanced 4;6 translocation and progressive renal disease
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
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28. Megarbane, A; Gosset, P; Souraty, N; Lapierre, JM; Turleau, C; Vekemans, M; Loiselet, J; Prieur, M
    Chromosome 7q22-q31 duplication: Report of a new case and review
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
    A. Megarbane et al., "Chromosome 7q22-q31 duplication: Report of a new case and review", AM J MED G, 95(2), 2000, pp. 164-168
29. Al-Saffar, M; Lemyre, E; Koenekoop, R; Duncan, AMV; Der Kaloustian, VM
    Phenotype of a patient with pure partial trisomy 2p(p23 -> pter)
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
    M. Al-Saffar et al., "Phenotype of a patient with pure partial trisomy 2p(p23 -> pter)", AM J MED G, 94(5), 2000, pp. 428-432
30. Celle, L; Lee, L; Rintoul, N; Savani, RC; Long, W; Mennuti, MT; Krantz, ID
    Duplication of chromosome region 4q28.3-qter in monozygotic twins with discordant phenotypes
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
    L. Celle et al., "Duplication of chromosome region 4q28.3-qter in monozygotic twins with discordant phenotypes", AM J MED G, 94(2), 2000, pp. 125-140
31. Speleman, F; Callens, B; Logghe, K; Van Roy, N; Horsley, SW; Jauch, A; Verschraegen-Spae, MR; Leroy, JG
    Subtelomeric familial translocation t(2;7)(q37;q35) leading to partial trisomy 7q35 -> qter: Molecular cytogenetic analysis and clinical phenotype intwo generations
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
    F. Speleman et al., "Subtelomeric familial translocation t(2;7)(q37;q35) leading to partial trisomy 7q35 -> qter: Molecular cytogenetic analysis and clinical phenotype intwo generations", AM J MED G, 93(5), 2000, pp. 349-354
32. Bacino, CA; Kashork, CD; Davino, NA; Shaffer, LG
    Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
    C.A. Bacino et al., "Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes", AM J MED G, 92(4), 2000, pp. 250-255
33. Faivre, L; Viot, G; Prieur, M; Turleau, C; Gosset, P; Romana, S; Munnich, A; Vekemans, M; Cormier-Daire, V
    Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
    L. Faivre et al., "Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism", AM J MED G, 91(4), 2000, pp. 273-276
34. Loffler, J; Utermann, B; Duba, HC; Mayr, U; Utermann, G; Erdel, M
    Mental and psychomotoric retardation in two brothers with pure partial trisomy 7q32-q34 due to a maternal insertion (14;7)
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
    J. Loffler et al., "Mental and psychomotoric retardation in two brothers with pure partial trisomy 7q32-q34 due to a maternal insertion (14;7)", AM J MED G, 91(4), 2000, pp. 291-297
35. Mau, UA; Backsch, C; Schaudt, H; Trefz, FK; Kaiser, P
    Three-year-old girl with partial trisomy 4p and partial monosomy 8p with resemblance to Brachmann-de Lange syndrome - Another locus for Brachmann-de Lange syndrome on 4p?
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
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36. Bhat, M; Morrison, PJ; Getty, A; McManus, D; Tubman, R; Nevin, NC
    First clinical case of small de novo duplication of 19q (13.3-13.4) confirmed by FISH
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
    M. Bhat et al., "First clinical case of small de novo duplication of 19q (13.3-13.4) confirmed by FISH", AM J MED G, 91(3), 2000, pp. 201-203
37. Angle, B; Hersh, JH; Yen, F; Christensen, KM
    Case of partial duplication 2q3 with characteristic phenotype: Rare occurrence of an unbalanced offspring resulting from a parental pericentric inversion
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
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38. Aviram-Goldring, A; Fritz, B; Bartsch, C; Steuber, E; Daniely, M; Lev, D; Chaki, R; Barkai, G; Frydman, M; Rehder, H
    Molecular cytogenetic studies in three patients with partial trisomy 2p, including CGH from paraffin-embedded tissue
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39. Batanian, JR; Huang, YF; Gottesman, GS; Grange, DK; Blasingame, AV
    Preferential involvement of the short arm in chromosome 8-derived supernumerary markers and ring as identified by chromosome arm painting
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
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40. Heller, A; Seidel, J; Hubler, A; Starke, H; Beensen, V; Senger, G; Rocchi, M; Wirth, J; Chudoba, I; Claussen, U; Liehr, T
    Molecular cytogenetic characterisation of partial trisomy 9q in a case with pyloric stenosis and a review
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41. Eussen, BHJ; Bartalini, G; Bakker, L; Balestri, P; Di Lucca, C; Van Hemel, JO; Dauwerse, H; van den Ouweland, AMW; Ris-Stalpers, C; Verhoef, S; Halley, DJJ; Fois, A
    An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito
    JOURNAL OF MEDICAL GENETICS
    
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42. Stankiewicz, P; Bocian, E; Jakubow-Durska, K; Obersztyn, E; Lato, E; Starke, H; Mroczek, K; Mazurczak, T
    Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH
    JOURNAL OF MEDICAL GENETICS
    
    P. Stankiewicz et al., "Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH", J MED GENET, 37(2), 2000, pp. 114-120
43. Hastings, RJ; Svennevik, EC; Setterfield, B; Wells, D; Delhanty, JDA; Mackinnon, H
    Deletion and duplication of the adenomatous polyposis coli gene resulting from an interchromosomal insertion involving 5(q22q23.3) in the father
    JOURNAL OF MEDICAL GENETICS
    
    R.J. Hastings et al., "Deletion and duplication of the adenomatous polyposis coli gene resulting from an interchromosomal insertion involving 5(q22q23.3) in the father", J MED GENET, 37(2), 2000, pp. 141-145
44. Stratakis, CA; Lafferty, A; Taymans, SE; Gafni, RI; Meck, JM; Blancato, J
    Anisomastia associated with interstitial duplication of chromosome 16, mental retardation, obesity, dysmorphic facies, and digital anomalies: Molecular mapping of a new syndrome by fluorescent in situ hybridization and microsatellites to 16q13 (D16S419-D16S503)
    JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    
    C.A. Stratakis et al., "Anisomastia associated with interstitial duplication of chromosome 16, mental retardation, obesity, dysmorphic facies, and digital anomalies: Molecular mapping of a new syndrome by fluorescent in situ hybridization and microsatellites to 16q13 (D16S419-D16S503)", J CLIN END, 85(9), 2000, pp. 3396-3401
45. Brady, AF; Waters, CS; Pocha, MJ; Brueton, LA
    Chronic myelomonocytic leukaemia in a child with constitutional partial trisomy 8 mosaicism
    CLINICAL GENETICS
    
    A.F. Brady et al., "Chronic myelomonocytic leukaemia in a child with constitutional partial trisomy 8 mosaicism", CLIN GENET, 58(2), 2000, pp. 142-146
46. Chena, C; Sarmiento, M; Palacios, MF; Scolnik, M; Slavutsky, I
    dup(12)(q13-q22) and 13q14 deletion in a case of B-cell chronic lymphocytic leukemia
    ACTA HAEMATOLOGICA
    
    C. Chena et al., "dup(12)(q13-q22) and 13q14 deletion in a case of B-cell chronic lymphocytic leukemia", ACT HAEMAT, 104(4), 2000, pp. 197-201
47. O'Connor, SJM; Su'ut, L; Morgan, GJ; Jack, AS
    The relationship between typical and atypical B-cell chronic lymphocytic leukemia - A comparative genomic hybridization-based study
    AJCP. American journal of clinical pathology
    
    S.J.M. O'Connor et al., "The relationship between typical and atypical B-cell chronic lymphocytic leukemia - A comparative genomic hybridization-based study", AM J CLIN P, 114(3), 2000, pp. 448-458
48. Rothlisberger, B; Kotzot, D; Brecevic, L; Koehler, M; Balmer, D; Binkert, F; Schinzel, A
    Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes
    EUROPEAN JOURNAL OF HUMAN GENETICS
    
    B. Rothlisberger et al., "Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes", EUR J HUM G, 7(8), 1999, pp. 873-883
49. Mohrschladt, MF; Bijlsma, EK; Sluijter, S; De Coo, RFM; Hoovers, JMN; Leschot, NJ
    A patient with a de novo t(6;9) and an interstitial duplication of (9)(q21.2q22.1)
    CLINICAL DYSMORPHOLOGY
    
    M.F. Mohrschladt et al., "A patient with a de novo t(6;9) and an interstitial duplication of (9)(q21.2q22.1)", CLIN DYSMOR, 8(3), 1999, pp. 211-214
50. Lukusa, T; Devriendt, K; Jaeken, J; Fryns, JP
    Mild dysmorphic signs in two male sibs with partial trisomy 2q32.1 -> q35 due to maternal ins(14;2) translocation
    CLINICAL DYSMORPHOLOGY
    
    T. Lukusa et al., "Mild dysmorphic signs in two male sibs with partial trisomy 2q32.1 -> q35 due to maternal ins(14;2) translocation", CLIN DYSMOR, 8(1), 1999, pp. 47-51
51. Shapiro, BL
    The Down Syndrome critical region
    JOURNAL OF NEURAL TRANSMISSION-SUPPLEMENT
    
    B.L. Shapiro, "The Down Syndrome critical region", J NEUR TR-S, (57), 1999, pp. 41-60
52. de Alba, MR; Sanz, R; Lorda-Sanchez, I; Fernandez-Moya, JM; Ayuso, C; Diaz-Recasens, J; Ramos, C
    Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation
    PRENATAL DIAGNOSIS
    
    M.R. de Alba et al., "Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation", PRENAT DIAG, 19(9), 1999, pp. 884-886
53. Chen, CP; Chern, SR; Lee, CC; Town, DD; Chen, WL; Wang, WS
    Bilateral renal agenesis and fetal ascites in association with partial trisomy 13 and partial trisomy 16 due to a 3 : 1 segregation of maternal reciprocal translocation t(13;16)(q12.3; p13.2)
    PRENATAL DIAGNOSIS
    
    C.P. Chen et al., "Bilateral renal agenesis and fetal ascites in association with partial trisomy 13 and partial trisomy 16 due to a 3 : 1 segregation of maternal reciprocal translocation t(13;16)(q12.3; p13.2)", PRENAT DIAG, 19(8), 1999, pp. 783-786
54. Goodman, BK; Stone, K; Coddett, JM; Cargile, CB; Gurewitsch, ED; Blakemore, KJ; Stetten, G
    Molecular cytogenetic analysis and clinical findings in a newborn with prenatally diagnosed rec(7)dup(7q)inv(7)(p22q31.3)pat
    PRENATAL DIAGNOSIS
    
    B.K. Goodman et al., "Molecular cytogenetic analysis and clinical findings in a newborn with prenatally diagnosed rec(7)dup(7q)inv(7)(p22q31.3)pat", PRENAT DIAG, 19(12), 1999, pp. 1150-1156
55. Starke, H; Schreyer, I; Kahler, C; Fiedler, W; Beensen, V; Heller, A; Nietzel, A; Claussen, U; Liehr, T
    Molecular cytogenetic characterization of a prenatally detected supernumerary minute marker chromosome 8
    PRENATAL DIAGNOSIS
    
    H. Starke et al., "Molecular cytogenetic characterization of a prenatally detected supernumerary minute marker chromosome 8", PRENAT DIAG, 19(12), 1999, pp. 1169-1174
56. Jay, A; Kilby, MD; Roberts, E; Brackley, K; Platt, C; McHugo, J; Davison, EV
    Prenatal diagnosis of mosaicism for partial trisomy 8: A case report including fetal pathology
    PRENATAL DIAGNOSIS
    
    A. Jay et al., "Prenatal diagnosis of mosaicism for partial trisomy 8: A case report including fetal pathology", PRENAT DIAG, 19(10), 1999, pp. 976-979
57. Han, JY; Kim, KH; Lee, HD; Moon, SY; Shaffer, LG
    De novo direct duplication of 15q15 -> q24 in a newborn boy with mild manifestations
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
    J.Y. Han et al., "De novo direct duplication of 15q15 -> q24 in a newborn boy with mild manifestations", AM J MED G, 87(5), 1999, pp. 395-398
58. Cai, T; Yu, P; Tagle, DA; Xia, JH
    Duplication of 7p21.2 -> pter due to maternal 7p;21q translocation: implications for critical segment assignment in the 7p duplication syndrome
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
    T. Cai et al., "Duplication of 7p21.2 -> pter due to maternal 7p;21q translocation: implications for critical segment assignment in the 7p duplication syndrome", AM J MED G, 86(4), 1999, pp. 305-311
59. Shashi, V; Berry, MN; Santos, C; Pettenati, MJ
    Partial duplication of 4q12q13 leads to a mild phenotype
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
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60. Seidahmed, MZ; Rooney, DE; Salih, MAM; Basit, OBA; Shaheed, MM; Abdullah, MA; Abomelha, A
    Case of partial trisomy 2q3 with clinical manifestations of Marshall-Smithsyndrome
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
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61. Giardino, D; Bettio, D; Gottardi, G; Rizzi, N; Pierluigi, M; Perfumo, C; Cali, A; Bricarelli, FD; Larizza, L
    FISH characterization of two supernumerary r(1) associated with distinct clinical phenotypes
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
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62. Mowat, D; Jauch, A; Robson, L; Smith, A
    Duplication within chromosome 5q characterized by fluorescence in situ hybridization
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
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63. Zaslav, AL; Fallet, S; Blumenthal, D; Jacob, J; Fox, J
    Mosaicism with a normal cell line and an unbalanced structural rearrangement
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
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64. Bokemeier, M; Bartz, UG; Bohlander, SK
    Partial trisomy 7q32 -> qter and partial monosomy 17p13 -> pter infamilialtranslocation
    MONATSSCHRIFT KINDERHEILKUNDE
    
    M. Bokemeier et al., "Partial trisomy 7q32 -> qter and partial monosomy 17p13 -> pter infamilialtranslocation", MONATS KIND, 147(1), 1999, pp. 22-26
65. Valero, R; Marfany, G; Gil-Benso, R; Ibanez, MD; Lopez-Pajares, I; Prieto, F; Rul-lan, G; Sarret, E; Gonzalez-Duarte, R
    Molecular characterisation of partial chromosome 21 aneuploidies by fluorescent PCR
    JOURNAL OF MEDICAL GENETICS
    
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66. Delatycki, MB; Voullaire, L; Francis, D; Petrovic, V; Robertson, A; Webber, LM; Slater, HR
    Directly inherited partial trisomy of chromosome 6p identified in a fatherand daughter by chromosome microdissection
    JOURNAL OF MEDICAL GENETICS
    
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67. Gentile, M; Buonadonna, AL; Cariola, F; Fiorente, P; Valenzano, MC; Guanti, G
    Molecular and cytogenetic characterisation of an unusual case of partial trisomy partial monosomy 13 mosaicism: 46,XX,r(13)(p11q14)/46,XX,der(13)t(13;13)(q10;q14)
    JOURNAL OF MEDICAL GENETICS
    
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68. Morelli, SH; Deubler, DA; Brothman, LJ; Carey, JC; Brothman, AR
    Partial trisomy 17p detected by spectral karyotyping
    CLINICAL GENETICS
    
    S.H. Morelli et al., "Partial trisomy 17p detected by spectral karyotyping", CLIN GENET, 55(5), 1999, pp. 372-375
69. Kalsi, G; Mankoo, B; Curtis, D; Sherrington, R; Melmer, G; Brynjolfsson, J; Sigmundsson, T; Read, T; Murphy, P; Petersson, H; Gurling, H
    New DNA markers with increased informativeness show diminished support fora chromosome 5q11-13 schizophrenia susceptibility locus and exclude linkage in two new cohorts of British and Icelandic families
    ANNALS OF HUMAN GENETICS
    
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70. Lukusa, T; Devriendt, K; Fryns, JP
    A 3p deletion syndrome in a child with both del(3)(p25 -> pter) and dup(17)(q23 -> qter)
    ANNALES DE GENETIQUE
    
    T. Lukusa et al., "A 3p deletion syndrome in a child with both del(3)(p25 -> pter) and dup(17)(q23 -> qter)", ANN GENET, 42(2), 1999, pp. 91-94
71. KODAMA T; SHIBUYA Y; SETOGAWA T; HASEGAWA Y; YAMAGUCHI S; HIRAYAMA Y
    A CASE OF MICROPHTHALMOS WITH CYST AND PARTIAL TRISOMY-22
    Ophthalmic genetics
    
    T. Kodama et al., "A CASE OF MICROPHTHALMOS WITH CYST AND PARTIAL TRISOMY-22", Ophthalmic genetics, 19(2), 1998, pp. 93-97
72. BABOVICVUKSANOVIC D; WESTMAN JA; JALAL SM; LINDOR NM
    CLINICAL CHARACTERISTICS ASSOCIATED WITH DUP17(Q24Q25.1) IN A MOSAIC MOTHER AND 2 NON-MOSAIC DAUGHTERS
    Clinical dysmorphology
    
    D. Babovicvuksanovic et al., "CLINICAL CHARACTERISTICS ASSOCIATED WITH DUP17(Q24Q25.1) IN A MOSAIC MOTHER AND 2 NON-MOSAIC DAUGHTERS", Clinical dysmorphology, 7(3), 1998, pp. 171-176
73. ANDREASSON P; HOGLUND M; JONSON T; BEKASSY A; MITELMAN F; JOHANSSON B
    MOLECULAR CHARACTERIZATION OF JUMPING TRANSLOCATIONS REVEALS SPATIAL AND TEMPORAL BREAKPOINT HETEROGENEITY
    Leukemia
    
    P. Andreasson et al., "MOLECULAR CHARACTERIZATION OF JUMPING TRANSLOCATIONS REVEALS SPATIAL AND TEMPORAL BREAKPOINT HETEROGENEITY", Leukemia, 12(9), 1998, pp. 1411-1416
74. Sabbatino, MS; Melis, D; Della Casa, R; D'Agostino, A; Cascioli, MC; Parenti, G
    Unbalanced translocation with partial 6p trisomy and partial 11q monosomy:a case report
    RIVISTA ITALIANA DI PEDIATRIA-ITALIAN JOURNAL OF PEDIATRICS
    
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75. Chen, CP; Lee, CC; Pan, CW; Kir, TY; Chen, BF
    Partial trisomy 8q and partial monosomy 15q associated with congenital hydrocephalus diaphragmatic hernia, urinary tract anomalies, congenital heart defect and kyphoscoliosis
    PRENATAL DIAGNOSIS
    
    C.P. Chen et al., "Partial trisomy 8q and partial monosomy 15q associated with congenital hydrocephalus diaphragmatic hernia, urinary tract anomalies, congenital heart defect and kyphoscoliosis", PRENAT DIAG, 18(12), 1998, pp. 1289-1293
76. Witters, I; Van Buggenhout, G; Moerman, P; Fryns, JP
    Prenatal diagnosis of de novo distal 5q duplication associated with hygroma colli, fetal oedema and complex cardiography
    PRENATAL DIAGNOSIS
    
    I. Witters et al., "Prenatal diagnosis of de novo distal 5q duplication associated with hygroma colli, fetal oedema and complex cardiography", PRENAT DIAG, 18(12), 1998, pp. 1304-1307
77. BATANIAN JR; ESWARA MS
    DE-NOVO APPARENTLY BALANCED COMPLEX CHROMOSOME REARRANGEMENT (CCR) INVOLVING CHROMOSOME-4, CHROMOSOME-18, AND CHROMOSOME-21 IN A GIRL WITH MENTAL-RETARDATION - REPORT AND REVIEW
    American journal of medical genetics
    
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78. KOZMA C; BLANCATO J; MECK J; JIANG Y
    CHARACTERIZATION OF A SUPERNUMERARY MARKER DERIVED FROM CHROMOSOME-17BY MICRODISSECTION IN AN ADULT WITH MR MCA/
    American journal of medical genetics
    
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79. LI SY; GIBSON LH; GOMEZ K; POBER BR; YANGFENG TL
    FAMILIAL DUP(5)(Q15Q21) ASSOCIATED WITH NORMAL AND ABNORMAL PHENOTYPES
    American journal of medical genetics
    
    S.Y. Li et al., "FAMILIAL DUP(5)(Q15Q21) ASSOCIATED WITH NORMAL AND ABNORMAL PHENOTYPES", American journal of medical genetics, 75(1), 1998, pp. 75-77
80. Lukusa, T; Fryns, JP
    Syndrome of facial, oral, and digital anomalies due to 7q21.2 -> q22.1 duplication
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
    T. Lukusa e J.P. Fryns, "Syndrome of facial, oral, and digital anomalies due to 7q21.2 -> q22.1 duplication", AM J MED G, 80(5), 1998, pp. 454-458
81. WIECZOREK D; ENGELS H; VIERSBACH R; HENKE B; SCHWANITZ G; PASSARGE E
    ANALYSIS OF A FAMILIAL 3 WAY TRANSLOCATION INVOLVING CHROMOSOMES 3Q, 6Q, AND 15Q BY HIGH-RESOLUTION BANDING AND FLUORESCENT IN-SITU HYBRIDIZATION (FISH) SHOWS 2 DIFFERENT UNBALANCED KARYOTYPES IN SIBS
    Journal of Medical Genetics
    
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82. Lukusa, T; Van Buggenhout, G; Devriendt, K; Meireleire, J; Van Goethem, G; Roelen, L; Fryns, JP
    Zygodactyly as the most striking physical anomaly in an adult male patientwith pure partial trisomy 1q.
    ANNALES DE GENETIQUE
    
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83. MADAN K; NIEUWINT AWM; VANBEVER Y
    RECOMBINATION IN A BALANCED COMPLEX TRANSLOCATION OF A MOTHER LEADINGTO A BALANCED RECIPROCAL TRANSLOCATION IN THE CHILD - REVIEW OF 60 CASES OF BALANCED COMPLEX TRANSLOCATIONS
    Human genetics
    
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84. NEKARDA T; KECECIOGLU D; KEHL HG; GEHRMANN J; MINY P; VOGT J
    A RARE COMBINATION OF PARTIAL TRISOMY-9 A ND PULMONARY ATRESIA
    Klinische Padiatrie
    
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85. TARDY EP; TOTH A; KOSZTOLANYI G
    PRENATAL EXCLUSION OF SEGMENTAL TRISOMY IN FAMILIAL CHROMOSOME-21 PERICENTRIC-INVERSION BY FLUORESCENCE IN-SITU HYBRIDIZATION
    Prenatal diagnosis
    
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86. MATOS A; NOGUEIRA A; CRIADO B; PEREIRA S; CASTEDO S; MONTENEGRO N
    PRENATAL-DIAGNOSIS OF PARTIAL TRISOMY 2Q - CASE-REPORT
    Prenatal diagnosis
    
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87. WINSOR SHM; MCGRATH MJ; KHALIFA M; DUNCAN AMV
    A REPORT OF RECURRENT ANENCEPHALY WITH TRISOMY 2P23-2PTER - ADDITIONAL EVIDENCE FOR THE INVOLVEMENT OF 2P24 IN NEURAL-TUBE DEVELOPMENT AND EVALUATION OF THE ROLE FOR CYTOGENETIC ANALYSIS
    Prenatal diagnosis
    
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88. CHEN CP; LIN CC; CHUANG CY; LEE CC; CHEN WL; JAN SW; LIN SP
    PRENATAL-DIAGNOSIS OF PARTIAL TRISOMY-12 AND PARTIAL TRISOMY-21 DUE TO A 3 1-SEGREGATION OF MATERNAL RECIPROCAL TRANSLOCATION T(12-21) (P13.3-Q21)/
    Prenatal diagnosis
    
    C.P. Chen et al., "PRENATAL-DIAGNOSIS OF PARTIAL TRISOMY-12 AND PARTIAL TRISOMY-21 DUE TO A 3 1-SEGREGATION OF MATERNAL RECIPROCAL TRANSLOCATION T(12-21) (P13.3-Q21)/", Prenatal diagnosis, 17(7), 1997, pp. 675-680
89. XU J; CHERNOS J; ROLAND B
    TRISOMY 16PTER TO 16Q12.1 AND MONOSOMY 22PTER TO 22Q11.2 RESULTING FROM ADJACENT-2 SEGREGATION OF A MATERNAL COMPLEX CHROMOSOME REARRANGEMENT
    American journal of medical genetics
    
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90. ROTHENMUND H; CHUDLEY AE; DAWSON AJ
    FAMILIAL TRANSMISSION OF A SMALL SUPERNUMERARY MARKER CHROMOSOME08 IDENTIFIED BY FISH - AN UPDATE
    American journal of medical genetics
    
    H. Rothenmund et al., "FAMILIAL TRANSMISSION OF A SMALL SUPERNUMERARY MARKER CHROMOSOME08 IDENTIFIED BY FISH - AN UPDATE", American journal of medical genetics, 72(3), 1997, pp. 339-342
91. CHEN Z; GREBE TA; GUAN XY; NOTOHAMIPRODJO M; NUTTING PJ; STONE JF; TRENT JM; SANDBERG AA
    MATERNAL BALANCED TRANSLOCATION LEADING TO PARTIAL DUPLICATION OF 4Q AND PARTIAL DELETION OF IP IN A SON - CYTOGENETIC AND FISH STUDIES USING BAND-SPECIFIC PAINTING PROBES GENERATED BY CHROMOSOME MICRODISSECTION
    American journal of medical genetics
    
    Z. Chen et al., "MATERNAL BALANCED TRANSLOCATION LEADING TO PARTIAL DUPLICATION OF 4Q AND PARTIAL DELETION OF IP IN A SON - CYTOGENETIC AND FISH STUDIES USING BAND-SPECIFIC PAINTING PROBES GENERATED BY CHROMOSOME MICRODISSECTION", American journal of medical genetics, 71(2), 1997, pp. 160-166
92. SARRI C; GYFTODIMOU J; AVRAMOPOULOS D; GRIGORIADOU M; PEDERSEN W; PANDELIA E; PANGALOS C; ABAZIS D; KITSOS G; VASSILOPOULOS D; BRONDUMNIELSEN K; PETERSEN MB
    PARTIAL TRISOMY 17Q22-QTER AND PARTIAL MONOSOMY XQ27-QTER IN A GIRL WITH A DE-NOVO UNBALANCED TRANSLOCATION DUE TO A POSTZYGOTIC ERROR - CASE-REPORT AND REVIEW OF THE LITERATURE ON PARTIAL TRISOMY 17QTER
    American journal of medical genetics
    
    C. Sarri et al., "PARTIAL TRISOMY 17Q22-QTER AND PARTIAL MONOSOMY XQ27-QTER IN A GIRL WITH A DE-NOVO UNBALANCED TRANSLOCATION DUE TO A POSTZYGOTIC ERROR - CASE-REPORT AND REVIEW OF THE LITERATURE ON PARTIAL TRISOMY 17QTER", American journal of medical genetics, 70(1), 1997, pp. 87-94
93. DOHENY KF; RASMUSSEN SA; RUTBERG J; SEMENZA GL; STAMBERG J; SCHWARTZ M; BATISTA DAS; STETTEN G; THOMAS GH
    SEGREGATION OF A FAMILIAL BALANCED (12-10) INSERTION RESULTING IN DUP(10)(Q21.2Q22.1) AND DEL(10)(Q21.2Q22.1) IN FIRST COUSINS
    American journal of medical genetics
    
    K.F. Doheny et al., "SEGREGATION OF A FAMILIAL BALANCED (12-10) INSERTION RESULTING IN DUP(10)(Q21.2Q22.1) AND DEL(10)(Q21.2Q22.1) IN FIRST COUSINS", American journal of medical genetics, 69(2), 1997, pp. 188-193
94. LORDASANCHEZ I; URIOSTE M; VILLA A; CARRASCOSA MD; VAZQUEZ MS; MARTINEZ A; MARTINEZFRIAS ML
    PROXIMAL PARTIAL 5P TRISOMY RESULTING FROM A MATERNAL (19-5) INSERTION
    American journal of medical genetics
    
    I. Lordasanchez et al., "PROXIMAL PARTIAL 5P TRISOMY RESULTING FROM A MATERNAL (19-5) INSERTION", American journal of medical genetics, 68(4), 1997, pp. 476-480
95. JUAN JLC; CIGUDOSA JC; GOMEZ AO; ALMEIDA MTA; MIRANDA JLG
    DE-NOVO TRISOMY 16P
    American journal of medical genetics
    
    J.L.C. Juan et al., "DE-NOVO TRISOMY 16P", American journal of medical genetics, 68(2), 1997, pp. 219-221
96. MORRISON PJ; SMITH NM; MARTIN KE; YOUNG ID
    MOSAIC PARTIAL TRISOMY-17 DUE TO A RING CHROMOSOME IDENTIFIED BY FLUORESCENCE IN-SITU HYBRIDIZATION
    American journal of medical genetics
    
    P.J. Morrison et al., "MOSAIC PARTIAL TRISOMY-17 DUE TO A RING CHROMOSOME IDENTIFIED BY FLUORESCENCE IN-SITU HYBRIDIZATION", American journal of medical genetics, 68(1), 1997, pp. 50-53
97. DEVRIENDT K; PETIT P; MATTHIJS G; VERMEESCH JR; HOLVOET M; DEMUELENAERE A; MARYNEN P; CASSIMAN JJ; FRYNS JP
    TRISOMY-15 RESCUE WITH JUMPING TRANSLOCATION OF DISTAL 15Q IN PRADER-WILLI-SYNDROME
    Journal of Medical Genetics
    
    K. Devriendt et al., "TRISOMY-15 RESCUE WITH JUMPING TRANSLOCATION OF DISTAL 15Q IN PRADER-WILLI-SYNDROME", Journal of Medical Genetics, 34(5), 1997, pp. 395-399
98. DUBA HC; ERDEL M; LOFFLER J; BEREUTHER L; FISCHER H; UTERMANN B; UTERMANN G
    DETECTION OF A DE-NOVO DUPLICATION OF 1Q32-QTER BY FLUORESCENCE IN-SITU HYBRIDIZATION IN A BOY WITH MULTIPLE MALFORMATIONS - FURTHER DELINEATION OF THE TRISOMY 1Q SYNDROME
    Journal of Medical Genetics
    
    H.C. Duba et al., "DETECTION OF A DE-NOVO DUPLICATION OF 1Q32-QTER BY FLUORESCENCE IN-SITU HYBRIDIZATION IN A BOY WITH MULTIPLE MALFORMATIONS - FURTHER DELINEATION OF THE TRISOMY 1Q SYNDROME", Journal of Medical Genetics, 34(4), 1997, pp. 309-313
99. FUSTER C; MIGUEZ L; MIRO R; RIGOLA MA; PEREZ A; EGOZCUE J
    FAMILIAL COMPLEX CHROMOSOME REARRANGEMENT ASCERTAINED BY IN-SITU HYBRIDIZATION
    Journal of Medical Genetics
    
    C. Fuster et al., "FAMILIAL COMPLEX CHROMOSOME REARRANGEMENT ASCERTAINED BY IN-SITU HYBRIDIZATION", Journal of Medical Genetics, 34(2), 1997, pp. 164-166
100. MATTINA T; PIERLUIGI M; MAZZONE D; SCARDILLI S; PERFUMO C; MOLLICA F
     DOUBLE PARTIAL TRISOMY 9Q34.1-]QTER AND 21PTER-]Q22.11 - FISH AND CLINICAL FINDINGS
     Journal of Medical Genetics
     
     T. Mattina et al., "DOUBLE PARTIAL TRISOMY 9Q34.1-]QTER AND 21PTER-]Q22.11 - FISH AND CLINICAL FINDINGS", Journal of Medical Genetics, 34(11), 1997, pp. 945-948