ChromosOmics - Database

Icon by Leon Liehr                   

                                                     - REFERENCES for #9 -                                                              

      0. Liehr et al. unpublished data
  1. Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, Volleth M, Albrecht B, Mitulla B, Trappe R, Bartels I, Adolph S, Dufke A, Singer S, Stumm M, Wegner RD, Seidel J, Schmidt A, Kuechler A, Schreyer I, Claussen U, Von Eggeling F, Liehr T.
    Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification.
    Hum Genet. 2003 Dec;114(1):51-67.
  2. Starke H, Seidel J, Henn W, Reichardt S, Volleth M, Stumm M, Behrend C, Sandig KR, Kelbova C, Senger G, Albrecht B, Hansmann I, Heller A, Claussen U, Liehr T.
    Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements.
    Eur J Hum Genet. 2002 Dec;10(12):790-800.
  3. James RS, Temple IK, Dennis NR, Crolla JA.
    A search for uniparental disomy in carriers of supernumerary marker chromosomes.
    Eur J Hum Genet. 1995;3(1):21-26.
  4. Anderlid BM, Sahlen S, Schoumans J, Holmberg E, Ahsgren I, Mortier G, Speleman F, Blennow E.
    Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy.
    Am J Med Genet. 2001 Mar 15;99(3):223-233.
  5. Blennow E, Anneren G, Bui TH, Berggren E, Asadi E, Nordenskjold M.
    Characterization of supernumerary ring marker chromosomes by fluorescence in situ hybridization (FISH).
    Am J Hum Genet. 1993 Aug;53(2):433-442.
  6. Aalfs CM, Jacobs ME, Nieste-Otter MA, Hennekam RC, Hoovers JM.
    Two supernumerary marker chromosomes, derived from chromosome 6 and 9, in a boy with mild developmental delay.
    Clin Genet. 1996 Jan;49(1):42-45.
  7. Callen DF, Ringenbergs ML, Fowler JC, Freemantle CJ, Haan EA.
    Small marker chromosomes in man: origin from pericentric heterochromatin of chromosomes 1, 9, and 16.
    J Med Genet. 1990 Mar;27(3):155-159.
  8. Slater HR, Ralph A, Daniel A, Worthington S, Roberts C.
    A case of maternal uniparental disomy of chromosome 9 diagnosed prenatally and the related problem of residual trisomy.
    Prenat Diagn. 2000 Nov;20(11):930-932.
  9. Langer S, Fauth C, Rocchi M, Murken J, Speicher MR.
    AcroM fluorescent in situ hybridization analyses of marker chromosomes.
    Hum Genet. 2001 Aug;109(2):152-158.
  10. Xu J, Fong CT, Cedrone E, Sullivan J, Wang N.
    Prenatal identification of de novo marker chromosomes using micro-FISH approach.
    Clin Genet. 1998 Jun;53(6):490-496.
  11. Müller-Navia J, Nebel A, Schleiermacher E.
    Complete and precise characterization of marker chromosomes by application of microdissection in prenatal diagnosis.
    Hum Genet. 1995 Dec;96(6):661-669.
  12. Raimondi E, Ferretti L, Young BD, Sgaramella V, De Carli L.
    The origin of a morphologically unidentifiable human supernumerary minichromosome traced through sorting, molecular cloning, and in situ hybridisation.
    J Med Genet. 1991 Feb;28(2):92-96.
  13. Mowrey PN, Williford B, Kratzer S, Tepperberg JH, Gadi IK, Phillips KK, Canterino J, Neal R, Dalayar T, Pappenhausen PR.
    Risk assessment of prenatal double supernumerary ring(9) chromosomes
    Am J Hum Genet. 2001, 68(Suppl 4):807
  14. Viersbach R, Engels H, Gamerdinger U, Hansmann M.
    Delineation of supernumerary marker chromosomes in 38 patients.
    Am J Med Genet. 1998 Apr 1;76(4):351-358.
  15. Miller WA, Thayer BA, McLaughlin C, et al.
    Chromosomal origin of de novo marker chromosomes identified prenatally.
    Am J Hum Genet. 1992, 51 (Suppl):A1030.
  16. Blennow E, Nielsen KB, Telenius H, Carter NP, Kristoffersson U, Holmberg E, Gillberg C, Nordenskjold M.
    Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization.
    Am J Med Genet. 1995 Jan 2;55(1):85-94.
  17. Callen DF, Eyre H, Yip MY, Freemantle J, Haan EA.
    Molecular cytogenetic and clinical studies of 42 patients with marker chromosomes.
    Am J Med Genet. 1992 Jul 1;43(4):709-715.
  18. Depinet TW, Zackowski JL, Earnshaw WC, Kaffe S, Sekhon GS, Stallard R, Sullivan BA, Vance GH, Van Dyke DL, Willard HF, Zinn AB, Schwartz S.
    Characterization of neo-centromeres in marker chromosomes lacking detectable alpha-satellite DNA.
    Hum Mol Genet. 1997 Aug;6(8):1195-1204.
  19. Choo KH.
    Centromere DNA dynamics: latent centromeres and neocentromere formation.
    Am J Hum Genet. 1997 Dec;61(6):1225-1233.
  20. Vance GH, Curtis CA, Heerema NA, Schwartz S, Palmer CG.
    An apparently acentric marker chromosome originating from 9p with a functional centromere without detectable alpha and beta satellite sequences.
    Am J Med Genet. 1997 Sep 5;71(4):436-442.
  21. Amor DJ, Choo KH.
    Neocentromeres: role in human disease, evolution, and centromere study.
    Am J Hum Genet. 2002 Oct;71(4):695-714.
  22. Satinover DL, Eichler EE, Schwartz S.
    Identification of two distinct genomic organizations in neocentromeres: implications for neocentromere acquisition.
    Am J Hum Genet 2001; Suppl 69:A200.
  23. Guanciali-Franchi P, Calabrese G, Morizio E, Fantasia D, Colosimo A, Rinaldi MM, Cristini L, Simonelli A, Lonardo F, Turci A, Zatterale A, Lagana C, Stuppia L, Sabatino G, Palka G.
    Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis.
    Am J Med Genet. 2004 Jun 1;127A(2):144-148.
  24. Vorsanova SG, Yurov YB, Soloviev IV, Demidova IA, Malet P.
    Rapid identification of marker chromosomes by in situ hybridization under different stringency conditions.
    Anal Cell Pathol. 1994 Oct;7(3):251-258.
  25. Warburton PE.
    Chromosomal dynamics of human neocentromere formation.
    Chromosome Res. 2004;12(6):617-626.
  26. Hall S, Boda Y, Cohen M, Junio J, Polihronis A, Tyrrell V, Wright D.
    FISH-mapping of r(9) and r(18) chromosomes ina mosaic newborn female.
    Chromosome Res 2005; 13 suppl. 1: 61 (Abstractnr. 1.108-P)
  27. Liehr T, Mrasek K, Starke H, Claussen U, Schreiber G.
    Unusual small supernumerary marker chromosome (sSMC) 9 in a Klinefelter patient.
    Cytogenet Genome Res. 2005;111(2):179-181.
  28. Paulis M, Bensi M, Moralli D, De Carli L, Raimondi E.
    A set of duplicons on human chromosome 9 is involved in the origin of a supernumerary marker chromosome.
    Genomics. 2006;87(6):747-757.
  29. Italiano A, Attias R, Aurias A, Perot G, Burel-Vandenbos F, Otto J, Venissac N, Pedeutour F.
    Molecular cytogenetic characterization of a metastatic lung sarcomatoid carcinoma: 9p23 neocentromere and 9p23 approximately p24 amplification including JAK2 and JMJD2C.
    Cancer Genet Cytogenet. 2006 Jun;167(2):122-130.
  30. Brecevic L, Michel S, Starke H, Muller K, Kosyakova N, Mrasek K, Weise A, Liehr T.
    Multicolor FISH used for the characterization of small supernumerary marker chromosomes (sSMC) in commercially available immortalized cell lines.
    Cytogenet Genome Res. 2006;114(3-4):319-324.
  31. Huang B, Solomon S, Thangavelu M, Peters K, Bhatt S.
    Supernumerary marker chromosomes detected in 100 000 prenatal diagnoses: molecular cytogenetic studies and clinical significance.
    Prenat Diagn. 2006 Dec;26(12):1142-1150.
  32. Nelle H, Santos M, Mrasek K, Rigola MA, Fuster C, Liehr T.
    Identification of a “cryptic mosaicism” involving at least 4 different small supernumerary marker chromosomes, derived from chromosome 9, in a potential infertile woman .
    MedGen 2007, Vol. 19, p 71 (Abstractnr. P033).
  33. McAuliffe F, Winsor EJ, Chitayat D.
    Tetrasomy 9p mosaicism associated with a normal phenotype.
    Fetal Diagn Ther. 2005 May-Jun;20(3):219-222.
  34. Satinover DL, Vance GH, Van Dyke DL, Schwartz S.
    Cytogenetic analysis and construction of a BAC contig across a common neocentromeric region from 9p.
    Chromosoma. 2001 Aug;110(4):275-283.
  35. Santos M, Mrasek K, Rigola MA, Starke H, Liehr T, Fuster C.
    Identification of a "cryptic mosaicism" involving at least four different small supernumerary marker chromosomes derived from chromosome 9 in a woman without reproductive success.
    Fertil Steril. 2007 Oct;88(4):969.e11-7.
  36. Li YC, Hsieh LJ, Chen CP, Tsai FJ, Lin CC.
    Identification of marker chromosomes using FISH-based technology and DNA polymorphic markers.
    Abstracts 57th annual meeting of the American Society of Human Genetics, 23.-27.10.2007, p320 (Abstractno. 1617 - information directly from poster).
  37. Capozzi O, Purgato S, Verdun di Cantogno L, Grosso E, Ciccone R, Zuffardi O, Della Valle G, Rocchi M.
    Evolutionary and clinical neocentromeres: two faces of the same coin?
    Chromosoma. 2008 Aug;117(4):339-344.
  38. Marshall OJ, Chueh AC, Wong LH, Choo KH.
    Neocentromeres: new insights into centromere structure, disease development, and karyotype evolution.
    Am J Hum Genet. 2008 Feb;82(2):261-182.
  39. Kadotani T.
    A case of partial trisomy for the long arm of chromosome 9.
    Proc Jpn Acad 1980; 56:157-161.
  40. Lukusa T, Devriendt K, Holvoet M, Fryns JP.
    Dicentric chromosome 9 due to tandem duplication of the 9p11-q13 region: unusual chromosome 9 variant.
    Am J Med Genet. 2000 Mar 20;91(3):192-197.
  41. Starke H, Seidel J, Henn W, Reichardt S, Volleth M, Stumm M, Behrend C, Sandig KR, Kelbova C, Senger G, Albrecht B, Hansmann I, Heller A, Claussen U, Liehr T.
    Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements.
    Eur J Hum Genet. 2002 Dec;10(12):790-800.
  42. Goumy C, Mihaescu M, Tchirkov A, Giollant M, Bonnet-Dupeyron MN, Jaffray JY, Geneix A, Perissel B, Francannet C, Boespflug-Tanguy O, Vago P.
    An unusual familial chromosome 9 "variant" with variable phenotype: characterization by CGH analysis.
    Morphologie. 2005 Jun;89(285):71-75.
  43. Di Giacomo MC, Cesarano C, Bukvic N, Manisali E, Guanti G, Susca F.
    Duplication of 9 p11.2-p13.1: a benign cytogenetic variant.
    Prenat Diagn. 2004 Aug;24(8):619-622.
  44. Willatt LR, Barber JC, Clarkson A, Simonic I, Raymond FL, Docherty Z, Ogilvie CM.
    Novel deletion variants of 9q13-q21.12 and classical euchromatic variants of 9q12/qh involve deletion, duplication and triplication of large tracts of segmentally duplicated pericentromeric euchromatin.
    Eur J Hum Genet. 2007 Jan;15(1):45-52.
  45. Manvelyan M, Riegel M, Santos M, Fuster C, Pellestor F, Mazauric ML, Schulze B, Polityko A, Tittelbach H, Reising-Ackermann G, Belitz B, Hehr U, Kelbova C, Volleth M, Gödde E, Anderson J, Küpferling P, Köhler S, Duba HC, Dufke A, Aktas D, Martin T, Schreyer I, Ewers E, Reich D, Mrasek K, Weise A, Liehr T.
    32 new cases with small supernumerary marker chromosomes (sSMC) detected in connection with fertility problems - detailed molecular cytogenetic characterization and review of the literature.
    Int J Mol Med 2008, 21(6):705-714.
  46. Kirchhoff M, Gerdes T, Brunebjerg S, Bryndorf T.
    Investigation of patients with mental retardation and dysmorphic features using comparative genomic hybridization and subtelomeric multiplex ligation dependent probe amplification.
    Am J Med Genet A. 2005 Dec 15;139(3):231-233.
  47. Polityko AD, Lazjuk GI, Liehr T.
    High resolution molecular cytogenetic approaches and study of marker chromosomes.
    Medica Genetics 2008, 7(3):34-40. (in Russian)
  48. Schinzel A
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 413-421.
  49. Schinzel A
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 421-424.
    i.e. following References:
    1. Cavalcanti DP, Ferrari I, de Almeida JC, de Pina Neto JM, de Oliveira JA.
    Tetrasomy 9p caused by idic (9) (pter----q13----pter).
    Am J Med Genet. 1987 Jul;27(3):497-503.
    2. Dutly F, Balmer D, Baumer A, Binkert F, Schinzel A.
    Isochromosomes 12p and 9p: parental origin and possible mechanisms of formation.
    Eur J Hum Genet. 1998 Mar-Apr;6(2):140-144.
    3. Foerster W, Koch M, Hansen S.
    [Tetrasomy 9p].
    Monatsschr Kinderheilkd. 1985 Sep;133(9):694-697. German.
    4. Garcia-Cruz D, Vaca G, Ibarra B, Sánchez-Corona J, Ocampo-Campos R, Peregrina S, Moller M, Rivera H, Rivas F, González-Angulo A, Cantu JM.
    Tetrasomy 9p: clinical aspects and enzymatic gene dosage expression.
    Ann Genet. 1982;25(4):237-242.
    5. Jalal SM, Kukolich MK, Garcia M, Benjamin TR, Day DW.
    Tetrasomy 9p: an emerging syndrome.
    Clin Genet. 1991 Jan;39(1):60-64.
    6. Leichtman LG, Zackowski JL, Storto PD, Newlin A.
    Non-mosaic tetrasomy 9p in a liveborn infant with multiple congenital anomalies: case report and comparison with trisomy 9p.
    Am J Med Genet. 1996 Jun 14;63(3):434-437.
    7. McDowall AA, Blunt S, Berry AC, Fensom AH.
    Prenatal diagnosis of a case of tetrasomy 9p.
    Prenat Diagn. 1989 Nov;9(11):809-811.
    8. Moedjono SJ, Crandall BF, Sparkes RS.
    Tetrasomy 9p: confirmation by enzyme analysis.
    J Med Genet. 1980 Jun;17(3):227-230.
    9. Park JP, Rawnsley BE, Marín-Padilla M.
    Tetrasomy 9p syndrome.
    Ann Genet. 1995;38(1):54-56.
    10. Schaefer GB, Domek DB, Morgan MA, Muneer RS, Johnson SF.
    Tetrasomy of the short arm of chromosome 9: prenatal diagnosis and further delineation of the phenotype.
    Am J Med Genet. 1991 Mar 15;38(4):612-615.
    11. Shapiro SD, Hansen KL, Littlefield CA.
    Brief clinical report: non-mosaic partial tetrasomy and partial trisomy 9.
    Am J Med Genet. 1985 Feb;20(2):271-276.
    12. Smart RD, Viljoen DL, Fraser B.
    Partial trisomy 9--further delineation of the phenotype.
    Am J Med Genet. 1988 Dec;31(4):947-951.
    13. Tonk VS.
    Moving towards a syndrome: a review of 20 cases and a new case of non-mosaic tetrasomy 9p with long-term survival.
    Clin Genet. 1997 Jul;52(1):23-29.
    14. Van Hove J, Kleczkowska A, De Bruyn M, Bekaert J, Fryns JP.
    Tetrasomy 9p: prenatal diagnosis and fetopathological findings in a second trimester male fetus.
    Ann Genet. 1994;37(3):139-142.
    15. Balestrazzi P, Croci G, Frassi C, Franchi F, Giovannelli G.
    Tetrasomy 9p confirmed by GALT.
    J Med Genet. 1983 Oct;20(5):396-399.
    16. Calvieri F, Tozzi C, Benincori C, De Merulis MV, Bellussi A, Genuardi M, Neri G.
    Partial tetrasomy 9 in an infant with clinical and radiological evidence of multiple joint dislocations.
    Eur J Pediatr. 1988 Aug;147(6):645-68.
    17. Cuoco C, Gimelli G, Pasquali F, Poloni L, Zuffardi O, Alicata P, Battaglino G, Bernardi F, Cerone R, Cotellessa M, Ghidoni A, Motta S.
    Duplication of the short arm of chromosome 9. Analysis of five cases.
    Hum Genet. 1982;61(1):3-7.
    18. Ghymers D, Hermann B, Distèche C, Frederic J.
    [Partial tetrasomy of number 9 chromosome, and mosaicism in a child with multiple malformations (author's transl)].
    Humangenetik. 1973 Dec 10;20(3):273-282.
    19. Melaragno MI, Brunoni D, Patrício FR, Corbani M, Mustacchi Z, dos Santos Rde C, Lederman HM.
    A patient with tetrasomy 9p, Dandy-Walker cyst and Hirschsprung disease.
    Ann Genet. 1992;35(2):79-84.
    20. Orye E, Verhaaren H, Van Egmond H, Devloo-Blancquaert A.
    A new case of the trisomy 9P syndrome. Report of a patient with unusual chromosome findings (46,XX/47,XX, + i (9p) and a peculiar congenital heart defect.
    Clin Genet. 1975 Feb;7(2):134-143.
    21. Papenhausen P, Riscile G, Miller K, Kousseff B, Tedesco T.
    Tissue limited mosaicism in a patient with tetrasomy 9p.
    Am J Med Genet. 1990 Nov;37(3):388-391.
    22. Peters J, Pehl C, Miller K, Sandlin CJ.
    Case report of mosaic partial tetrasomy 9 mimicking Klinefelter syndrome.
    Birth Defects Orig Artic Ser. 1982;18(3B):287-293.
    23. Rutten FJ, Scheres JM, Hustinx TW, ter Haar BG.
    A presumptive tetrasomy for the short arm of chromosome 9.
    Humangenetik. 1974;25(3):163-170.
    24. Stumm M, Tönnies H, Mandon U, Götze A, Krebs P, Wieacker PF.
    Mosaic tetrasomy 9p in a girl with multiple congenital anomalies: cytogenetic and molecular-cytogenetic studies.
    Eur J Pediatr. 1999 Jul;158(7):571-575.
    25. van de Kamp JJ, Geraedts JP.
    [A patient with Marfan's syndrome and a 9p tetrasomy].
    Tijdschr Kindergeneeskd. 1982 Feb;50(1):24-26. Dutch.
    26. Wik Sjöstedt A, Alatalo M, Wahlström J, von Döbeln U, Olegård R.
    Replication error, a new hypothesis to explain the origin of a supernumerary marker chromosome in a mentally retarded boy.
    Hereditas. 1989;111(2):115-123.
  50. Calabrese G, Stuppia L, Mingarelli R, Guanciali Franchi P, Peila R, Morizio E, Antonucci A, Palka G.
    Molecular characterization of two extra marker chromosomes detected at prenatal diagnosis.
    Ann Genet. 1994;37(3):135-138.
  51. Payne-Howell RM, Muneer RS, Einfeldst SE, Thompson L, Keppen L.
    A female with inverted insertion in chromosome 9.
    Am J Hum Genet 1985; 37: A111.
  52. Schinzel A
    Catalogue of unbalanced chromosomal aberrations in man.
    Walter de Gruyter Berlin, New York, 2001, p 437.
  53. Adamova K, Capkova P, Holzerova M, Jarosva M, Curtisova V, Santava A.
    unusual cases of trisomy 9p and tertasomy 9p detected postnatally.
    Chr Res 2009, 17(Supl. 1):S53 (Abstractno: 1.50-P).
  54. JCK Barber, S Huang, S Beal, D Bunyan, VK Maloney, M Collinson, JA Crolla.
    sSMC characterization by array-CGH.
    ECA-Newsletter 2009:24, p12.
  55. Neill NJ, Torchia BS, Bejjani BA, Shaffer LG, Ballif BC.
    Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH.
    Mol Cytogenet. 2010 Jun 29;3:11.
  56. Dabir T, McCullough S, Rauch K, Sm,ith G, McKee S.
    Tetrasomy 9p: pre and postnatally recognisable syndrome
    J Med Genet 2010; 47: Suppl. 1: S48 (Abstract No. 1.22).
  57. Abu-Amero K, Helani A, Salih M, Seidahmed M, Elmalik T, Zidan G, Bosley T.
    A de novo marker chromosome derived from 9p in a patient with autism: genotype-phenotype correlation
    J Med Genet 2010; 47: Suppl. 1: S99 (Abstract No. 3.29).
  58. Manolakos E, Kefalas K, Neroutsou R, Lagou M, Kosyakova N, Ewers E, Ziegler M, Weise A, Tsoplou P, Rapti S-M, Papoulidis I, Anastasakis E, Garas A, Sotiriou S, Eleftheriades M, Peitsidis P, Μalathrakis D, Thomaidis L, Kitsos G, Orru S, Liehr T, Petersen MB, Kitsiou-Tzeli S.
    Characterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: The value of fluorescence in situ hybridization.
    Mol Med Rep 2010, 3:1015-1022.
  59. Van Opstal D, Boter M, Noomen P, Srebniak M, Hamers G, Galjaard RJ.
    Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis.
    Mol Cytogenet 2011; 4:2.
  60. Sheth FJ, Andrieux J, Ewers E, Kosyakova N, Weise A, Sheth H, Romana SP, Lelorc'h M, Delobel B, Theisen O, Liehr T, Nampoothiri S, Sheth J.
    Characterization of sSMC by FISH and molecular techniques.
    Eur J Med Genet. 2011 May-Jun;54(3):247-255.
  61. Dietze-Armana I, Heimann J, Rossier E, Rettenberger G, Schlögl S, Mehnert K.
    Detailed sonographic, cytogenetic and molecular findings in five new prenatal cases with tetrasomy 9p.
    MedGen 2011, 23(1): 195.
  62. Abu-Amero KK, Hellani AM, Salih MA, Seidahmed MZ, Elmalik TS, Zidan G, Bosley TM.
    A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation.
    BMC Med Genet. 2010 Sep 21;11:135.
  63. Baronchelli S, Conconi D, Panzeri E, Bentivegna A, Redaelli S, Lissoni S, Saccheri F, Villa N, Crosti F, Sala E, Martinoli E, Volontè M, Marozzi A, Dalprà L.
    Cytogenetics of premature ovarian failure: an investigation on 269 affected women.
    J Biomed Biotechnol. 2011;2011:370195.
  64. Cardarelli L, Nalesso E, Gomirato S, Michelotto L, Marchioro K, Cellamare A, Duca M, Zavan B, Abatangelo G.
    Clinical application of whole genomic array-CGH during prenatal diagnostics: study of 25 selected pregnancies.
    Chromosome Res 2011, Vol 19 (Suppl. 1), pp S220 (Abstractnr. 10.P37)
  65. Zimmerman SL, Smolarek TA.
    Parental origin of mosaic trisomy 9 or mosaic partial trisomy 9 using SNP microarray analysis.
    Abstracts of the 12th International Congress of Human Genetics 2011, Montreal, Canada, Abstract 1254F.
  66. Yu S, Fiedler SD, Brawner SJ, Joyce JM, Zhou XG, Liu HY.
    Characterizing small supernumerary marker chromosomes with combination of multiple techniques.
    Cytogenet Genome Res. 2012;136(1):6-14.
  67. Kobayashi J, Kimijima Y, Yamada S, Amagasa T, Saito-Ohara F.
    4p- syndrome and 9p tetrasomy mosaicism with cleft lip and palate.
    J Craniomaxillofac Surg. 2000 Jun;28(3):165-170.
  68. Eggermann T, Rossier E, Theurer-Mainka U, Backsch C, Klein-Vogler U, Enders H, Kaiser P.
    New case of mosaic tetrasomy 9p with additional neurometabolic findings.
    Am J Med Genet. 1998 Feb 17;75(5):530-533.
  69. Eydoux P, Junien C, Despoisse S, Chassevent J, Bibring C, Gregori C.
    Gene dosage effect for GALT in 9p trisomy and in 9p tetrasomy with an improved technique for GALT determination.
    Hum Genet. 1981;57(2):142-144.
  70. Grass FS, Parke JC Jr, Kirkman HN, Christensen V, Roddey OF, Wade RV, Knutson C, Spence JE.
    Tetrasomy 9p: tissue-limited idic(9p) in a child with mild manifestations and a normal CVS result. Report and review.
    Am J Med Genet. 1993 Nov 1;47(6):812-816.
  71. Abe T, Morita M, Kawai K, Misawa S, Takino T, Hashimoto H, Nakagome Y.
    Partial tetrasomy 9(9pter to 9q2101) due to an extra iso-dicentric chromosome.
    Ann Genet. 1977 Jun;20(2):111-114.
  72. Andou R, Mimaki T, Ogihara T, Tamai H, Mino M.
    A case of tetrasomy 9p.
    Acta Paediatr Jpn. 1994 Dec;36(6):724-726.
  73. Nakamura Y, Sato E, Sakai K, Sakuma S, Hashimoto T, Sindou S.
    Abnormal chromosome 9 in a neonate program. Report of three cases.
    Arch Pathol Lab Med. 1990 Feb;114(2):185-187.
  74. Wisniewski L, Politis GD, Higgins JV.
    Partial tetrasomy 9 in a liveborn infant.
    Clin Genet. 1978 Sep;14(3):147-153.
  75. Ogino W, Takeshima Y, Nishiyama A, Yagi M, Oka N, Matsuo M.
    Mosaic tetrasomy 9p case with the phenotype mimicking Klinefelter syndrome and hyporesponse of gonadotropin-stimulated testosterone production.
    Kobe J Med Sci. 2007;53(4):143-150.
  76. di Vera E, Liberati M, Celentano C, Calabrese G, Guanciali-Franchi PE, Morizio E, Rotmensch S.
    Rhombencephalosynapsis in a severely polymalformed fetus with non-mosaic tetrasomy 9p, in intracytoplasmic-sperm-injection pregnancy.
    J Assist Reprod Genet. 2008 Nov-Dec;25(11-12):577-580.
  77. Shehab MI, Mazen I, Bint S.
    Tissue-specific mosaicism for tetrasomy 9p uncovered by array CGH.
    Am J Med Genet A. 2011 Oct;155A(10):2496-2500.
  78. Podolsky R, Saltzman D, Auerbach M, Roman AS.
    Absent nasal bone as a marker of tetrasomy 9p.
    Prenat Diagn. 2011 Dec;31(13):1313.
  79. Nakamura-Pereira M, Cima LC, Llerena JC Jr, Guerra FA, Peixoto-Filho FM.
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