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 unpublished data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.
    Sonographic findings in a case of tetrasomy 9p associated with increased nuchal translucency and Dandy-Walker malformation.
    J Clin Ultrasound. 2009 Oct;37(8):471-474.
  80. Coman D, Bacic S, Boys A, Sparrow DB, Dunwoodie SL, Savarirayan R, Amor DJ.
    Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p.
    Am J Med Genet A. 2008 Aug 1;146A(15):1972-1976.
  81. Tan YQ, Chen XM, Hu L, Guan XY, Lu GX.
    Prenatal diagnosis of nonmosaic tetrasomy 9p by microdissection and FISH: case report.
    Chin Med J (Engl). 2007 Jul 20;120(14):1281-1283.
  82. Chen CP, Chang TY, Chern SR, Lee CC, Town DD, Lee MS, Wang W.
    Prenatal diagnosis of low-level mosaic tetrasomy 9p by amniocentesis.
    Prenat Diagn. 2007 Apr;27(4):383-3835.
  83. Henriques-Coelho T, Oliva-Teles N, Fonseca-Silva ML, Tibboel D, Guimarães H, Correia-Pinto J.
    Congenital diaphragmatic hernia in a patient with tetrasomy 9p.
    J Pediatr Surg. 2005 Oct;40(10):e29-31.
  84. McPherson E, Neiswanger K, Surti U.
    Tetrasomy 9q in an infant with cleft palate and multiple anomalies.
    Clin Dysmorphol. 2005 Jul;14(3):145-147.
  85. Deurloo KL, Cobben JM, Heins YM, de Ru M, Wijnaendts LC, van Vugt JM.
    Prenatal diagnosis of tetrasomy 9p in a 19-week-old fetus with Dandy-Walker malformation: a case report.
    Prenat Diagn. 2004 Oct;24(10):796-798.
  86. Hengstschläger M, Bettelheim D, Drahonsky R, Repa C, Deutinger J, Bernaschek G.
    Prenatal diagnosis of tetrasomy 9p with Dandy-Walker malformation.
    Prenat Diagn. 2004 Aug;24(8):623-626.
  87. Tang W, Boyd BK, Hummel M, Wenger SL.
    Prenatal diagnosis of tetrasomy 9p.
    Am J Med Genet A. 2004 Apr 30;126A(3):328.
  88. de Azevedo Moreira LM, Freitas LM, Gusmão FA, Riegel M.
    New case of non-mosaic tetrasomy 9p in a severely polymalformed newborn girl.
    Birth Defects Res A Clin Mol Teratol. 2003 Dec;67(12):985-988.
  89. Lloveras E, Pérez C, Solé F, Zamora L, Lladonosa A, Espinet B, Silvestre E, Serra J, Vendrell T, Fernández B, Salido M, Plaja A.
    Two cases of tetrasomy 9p syndrome with tissue limited mosaicism.
    Am J Med Genet A. 2004 Feb 1;124A(4):402-406.
  90. Cazorla Calleja MR, Verdú A, Félix V.
    Dandy-Walker malformation in an infant with tetrasomy 9p.
    Brain Dev. 2003 Apr;25(3):220-223.
  91. Dhandha S, Hogge WA, Surti U, McPherson E.
    Three cases of tetrasomy 9p.
    Am J Med Genet. 2002 Dec 15;113(4):375-380.
  92. van de Loosdrecht AA, de Wolf JT, Noordhoek L, van den Berg E.
    Partial tetrasomy of 9p: a rare chromosomal abnormality in polycythaemia vera.
    Br J Haematol. 2001 Mar;112(4):1086-1087.
  93. Verheij JB, Bouman K, van Lingen RA, van Lookeren Campagne JG, Leegte B, van der Veen AY, Hofstra RM, Buys CH, van Essen AJ.
    Tetrasomy 9p due to an intrachromosomal triplication of 9p13-p22.
    Am J Med Genet. 1999 Sep 10;86(2):168-173.
  94. 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.
  95. 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.
  96. Anguiano A, Wang BT, Wang SR, Boyar FZ, Mahon LW, El Naggar MM, Kohn PH, Haddadin MH, Sulcova V, Sbeiti AH, Ayad MS, White BJ, Strom CM.
    Spectral karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory.
    Mol Cytogenet. 2012 Jan 16;5(1):3.
  97. Papoulidis I, Kontodiou M, Tzimina M, Saitis I, Hamid AB, Klein E, Kosyakova N, Kordaß U, Kunz J, Siomou E, Nicolaides P, Orru S, Thomaidis L, Liehr T, Petersen MB, Manolakos E.
    Tetrasomy 9p mosaicism associated with a normal phenotype in two cases.
    Cytogenet Genome Res 2012, 136:237-241.
  98. Hamid AB, Kreskowski K, Weise A, Kosayakova N, Mrasek K, Voigt M, Guilherme RS, Wagner R, Hardekopf D, Pekova S, Karamysheva T, Liehr T, Klein E.
    How to narrow down chromosomal breakpoints in small and large derivative chromosomes - a new probe set.
    J Appl Genet. 2012 Aug;53(3):259-269.
  99. Chen CP, Lin SP, Su JW, Town DD, Wang W.
    A de novo supernumerary marker chromosome derived from chromosome 9p (9p13.1-->p23) associated with attention deficit and hyperactivity disorder.
    Genet Couns. 2012;23(2):329-333.
  100. Guilherme RS, Klein E, Venner C, Hamid AB, Bhatt S, Melaragno MI, Volleth M, Polityko A, Kulpanovich A, Kosyakova N, Liehr T.
    Human ring chromosomes and small supernumerary marker chromosomes-do they have telomeres?
    Chromosome Res. 2012 Oct;20(7):825-835.
  101. Liehr T, Klein E, Mrasek K, Kosyakova N, Guilherme RS, Aust N, Venner C, Weise A, Hamid AB.
    Clinical impact of somatic mosaicism in cases with small supernumerary marker chromosomes.
    Cytogenet Genome Res. 2013; 139(1-2):158-163.
  102. Mendez B, Lloveras E, Cirigliano V, Català V, Falcon O, de la Iglesia C, Canellas A, Barranco L, Fernández D, Costa M, Palau N, Piqué M, Yeste D, Herrero M, Ferreti R, Mar Punzón M, Linares L, Rodríguez M, Plaja A.
    Prenatal diagnosis of an isochromosome of shorts arms of chromosome 9 in mosaic technique for array CGH
    Chromosome Res 2013, 21:S141 (Abstractnr. 13.P13)
  103. Liehr T, Cirkovic S, Lalic T, Guc-Scekic M, de Almeida C, Weimer J, Iourov I, Melaragno MI, Guilherme RS, Stefanou EG, Aktas D, Kreskowski K, Klein E, Ziegler M, Kosyakova N, Volleth M, Hamid AB.
    Complex small supernumerary marker chromosomes - an update.
    Mol Cytogenet. 2013 Oct 31;6(1):46.
  104. Gulten T, Gorukmez O, Gorukmez O, Karkucak M, Ture M, Yakut T.
    Another small supernumerary marker chromosome derived from chromosome 9 in a Klinefelter patient.
    West Indian Med J. 2012 Dec;61(9):924-927.
  105. Chen CP, Lin SP, Su JW, Lee MS, Wang W.
    Phenotypic features associated with mosaic tetrasomy 9p in a 20-year-old female patient include autism spectrum disorder.
    Genet Couns. 2012;23(2):335-338.
  106. Alby C, Burkhardt K, Bessieres B, Bonnière M, Bahi-Buisson N, Sonigo P, Millischer A, Malan V, Ville Y, Vekemans M, Attie Bitach T, Encha Razavi F.
    Corpus Callosum Malformations: a neuropathological description and classification in a series of 105 fetuses.
    Europ J Hum Genet 2014: 21(Suppl 2):427 (Abstractnr. P19.01).
  107. Pedurupillay CR, Misceo D, Gamage TH, Dissanayake VH, Frengen E.
    Post-zygotic breakage of a dicentric chromosome results in mosaicism for a telocentric 9p marker chromosome in a boy with developmental delay.
    Gene. 2014 Jan 1;533(1):403-410.
  108. Charalsawadi C, Jaruratanasirikul S, Wirojanan J, Praphanphoj V, Puangpech S, Jarauthamsophon K, Limprasert P.
    Meiotic I error in a Thai girl with tetrasomy 9p syndrome identified by SNP microarray.
    Abstracts of the 64th annual meeting of the American Society of Human Genetics, 18.-22. 10. 2014, p 820 (Abstractnummer 3208T)
  109. Liehr T.
    Small supernumerary marker chromosomes detected in connection with infertility.
    Zhonghua Nan Ke Xue. 2014 Sep;20(9):771-780.
  110. Chen CP, Wang LK, Chern SR, Wu PS, Chen YT, Kuo YL, Chen WL, Lee MS, Wang W.
    Mosaic tetrasomy 9p at amniocentesis: prenatal diagnosis, molecular cytogenetic characterization, and literature review.

    Taiwan J Obstet Gynecol. 2014 Mar;53(1):79-85.
  111. El Khattabi L, Jaillard S, Andrieux J, Pasquier L, Perrin L, Capri Y, Benmansour A, Toutain A, Marcorelles P, Vincent-Delorme C, Journel H, Henry C, De Barace C, Devisme L, Dubourg C, Demurger F, Lucas J, Belaud-Rotureau MA, Amiel J, Malan V, De Blois MC, De Pontual L, Lebbar A, Le Dû N, Germain DP, Pinard JM, Pipiras E, Tabet AC, Aboura A, Verloes A.
    Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review.
    Am J Med Genet A
    . 2015 Jun;167(6):1252-1261.
  112. Martínez-Jacobo L, Ortíz-López R, Rizo-Méndez A, García-Molina V, Santuario-Facio SK, Rivas F, Rojas-Martínez A.
    Clinical and molecular delineation of duplication 9p24.3q21.11 in a patient with psychotic behavior.
    . 2015 Apr 10;560(1):124-127.
  113. Temtamy SA, Kamel AK, Ismail S, Helmy NA, Aglan MS, El Gammal M, El Ruby M, Mohamed AM.
    Phenotypic and cytogenetic spectrum of 9p trisomy.
    Genet Couns
    . 2007;18(1):29-48.
  114. Manvelyan M, Simonyan I, Hovhannisyan G, Aroutiounian R, Hamid AB, Liehr T.
    A new case of a complex small supernumerary marker chromosome, a der(9)t(7;9)(p22;q22) due to a maternal balanced rearrangement.
    J Ped Genet 2015, 4:199-200.
  115. Lo KK, Karampetsou E, Boustred C, McKay F, Mason S, Hill M, Plagnol V, Chitty LS.
    Limited clinical utility of non-invasive prenatal testing for subchromosomal abnormalities.
    Am J Hum Genet. 2016 Jan 7;98(1):34-44.
  116. Wu J, Xie Y, Chen B.
    [Misdiagnosis of mosaic tetrasomy 9p in a fetus by single nucleotide polymorphism-based array].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi
    . 2015 Dec;32(6):830-3. doi: 10.3760/cma.j.issn.1003-9406.2015.06.017. Chinese.
  117. Frémond ML, Gitiaux C, Bonnet D, Guiddir T, Crow YJ, de Pontual L, Bader-Meunier B.
    Mosaic tetrasomy 9p: A Mendelian condition associated with pediatric-onset overlap myositis.
    Pediatrics. 2015 Aug;136(2):e544-7.
  118. Wang H, Xie LS, Wang Y, Mei J.
    Prenatal diagnosis of mosaic tetrasomy 9p in a fetus with isolated persistent left superior vena cava.
    Taiwan J Obstet Gynecol. 2015 Apr;54(2):204-5.
  119. Lazebnik N, Cohen L.
    Prenatal diagnosis and findings of tetrasomy 9p.
    J Obstet Gynaecol Res. 2015 Jul;41(7):997-1002.
  120. Chen CP, Chen M, Wang LK, Chern SR, Wu PS, Chen SW, Lai ST, Chang SP, Yang CW, Pan CW, Wang W.
    Detection of paternal uniparental disomy 9 in a neonate with prenatally detected mosaicism for a small supernumerary marker chromosome 9 and a supernumerary ring chromosome 9.
    Taiwan J Obstet Gynecol. 2017 Aug;56(4):527-533.
  121. Hussein IR, Bader RS, Chaudhary AG, Bassiouni R, Alquaiti M, Ashgan F, Schulten HJ, Al Qahtani MH.
    Identification of de novo and rare inherited copy number variants in children with syndromic congenital heart defects.
    Pediatr Cardiol. 2018 Jun;39(5):924-940. 
  122. Grochowski CM, Gu S, Yuan B, Tcw J, Brennand KJ, Sebat J, Malhotra D, McCarthy S, Rudolph U, Lindstrand A, Chong Z, Levy DL, Lupski JR, Carvalho CMB.
    Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.
    Hum Mutat
    . 2018 Jul;39(7):939-946.
  123. Sifuentes-Dominguez L, Starokadomskyy P, Welch J, Gurram B, Park JY, Koduru P, Burstein E.
    Mosaic tetrasomy 9p associated with inflammatory bowel disease.
    J Crohns Colitis. 2019 Oct 28;13(11):1474-1478.
  124. Ions R, Narayanan M, Browning M, Gaillard EA, Stiefel G, Tang JW.
    Case presentation: persistent adenovirus B3 infections associated with bronchiolitis obliterans treated with cidofovir in a child with mosaic tetrasomy 9p.
    BMC Infect Dis. 2018 Oct 22;18(1):529.
  125. Boxill M, Becher N, Sunde L, Thelle T.
    Choroid plexus hyperplasia and chromosome 9p gains.
    Am J Med Genet A. 2018 Jun;176(6):1416-1422.
  126. Vinkšel M, Volk M, Peterlin B, Lovrecic L.
    A systematic clinical review of prenatally diagnosed tetrasomy 9p.
    Balkan J Med Genet. 2019 Aug 28;22(1):11-20.
  127. Pinto IP, Minasi LB, Steckelberg R, da Silva CC, da Cruz AD.
    Mosaic Tetrasomy of 9p24.3q21.11 postnatally identified in an infant born with multiple congenital malformations: a case report.
    BMC Pediatr
    . 2018 Sep 7;18(1):298.
  128. Vinkšel M, Volk M, Peterlin B, Lovrecic L.
    A systematic clinical review of prenatally diagnosed tetrasomy 9p.
    Balkan J Med Genet
    . 2019 Aug 28;22(1):11-20.
  129. Liehr T, Al-Rikabi A.
    Mosaicism: Reason for normal phenotypes in carriers of small supernumerary marker chromosomes with known adverse autcome. A systematic review.
    Front Genet
    . 2019 Nov 11;10:1131.
  130. Xue H, Huang H, Wang Y, An G, Zhang M, Xu L, Lin Y.
    Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis.
    Mol Cytogenet
    . 2019 Mar 11;12:13.
  131. Vicic A, Bekavac Vlatkovic I, Crkvenac Gornik K, Stipoljev F.
    Prenatal diagnosis of monozygotic twins discordant for non mosaic tetrasomy 9p.
    Abstracts of the 12th European Cytogenomics Conference 2019; 3.P18
  132. Teraoka M, Narahara K, Yokoyama Y, Ninomiya S, Mizuta S, Une T, Seino Y.
    Maternal origin of a unique extra chromosome, der(9)(pter-->q13::q13-->q12:) in a girl with typical trisomy 9p syndrome.

    Am J Med Genet. 2001 Jul 22;102(1):25-8.
  133. Ninomiya S, Narahara K, Yokoyama Y, Tsuji K, Ito S, Akahori W, Akahori T, Seino Y.
    Interchange trisomy 9 due to maternal t(6;9) translocation.
    Acta Paediatr Jpn
    . 1994 Oct;36(5):519-21.
  134. Neu RL, Dennis NR, Lanman JT Jr, Bannerman RM.
    An infant with trisomy 9pter yields 9q22 resulting from 3:1 segregation in a 46,XX t(1;9) (p36;q22) mother.
    Ann Genet
    . 1979;22(3):151-4.
  135. Hengstschläger M, Bettelheim D, Repa C, Lang S, Deutinger J, Bernaschek G.
    A fetus with trisomy 9p and trisomy 10p originating from unbalanced segregation of a maternal complex chromosome rearrangement t(4;10;9).
    Fetal Diagn Ther
    . 2002 Jul-Aug;17(4):243-6.
  136. Rao H, Liu Y, Lu Q, Huang N, Zhou J.
    [The value of combined use of chromosomal karyotyping and chromosome microarray analysis for prenatal diagnosis].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Apr 10;37(4):392-396.
  137. Li T, Sang H, Chu G, Zhang Y, Qi M, Liu X, Cui W, Zhao Y.
    Genotype-phenotype correlation in 75 patients with small supernumerary marker chromosomes.
    Mol Cytogenet 2020;13:30.
  138. Joshi A, Lall M, Agarwal S, Paliwal P, Saviour P, Mahajan S, Puri R, Bijarnia S, Verma I.
    Molecular characterization of supernumerary marker chromosomes found as unexpected chromosome abnormalities in nine prenatal and nine postnatal samples.
    Obstet Gynecol Int J. 2019;10(3):211-221.
  139. Bellil H, Herve B, Herzog E, Ayoubi JM, Vialard F, Poulain M.
    A high level of tetrasomy 9p mosaicism but no clinical manifestations other than moderate oligozoospermia with chromosomally balanced sperm: a case report.
    J Assist Reprod Genet. 2020 Mar;37(3):573-577.
  140. Chen CP, Lo LM, Ko TM, Chern SR, Wu PS, Chen SW, Wu FT, Town DD, Chen LF, Chen YY, Wang W.
    Prenatal diagnosis of low-level mosaicism for a small supernumerary marker chromosome derived from chromosome 9q (9q13-q21.33) in a pregnancy with a favorable outcome, and cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes.
    Taiwan J Obstet Gynecol. 2021 Mar;60(2):331-334. 
  141. Markova Z, Minzhenkova M, Tarlicheva A, Shilova N.
    Characterization of small supernumerary marker chromosomes in individuals without phenotypic abnormalities.
    ECA-Newsletter 2021, 48, p39. Poster 3.P29.
  142. Shu W, Cheng SSW, Xue S, Chan LW, Soong SI, Kan ASY, Cheung SWH, Choy KW.
    First case report of maternal mosaic tetrasomy 9p incidentally detected on non-invasive prenatal testing.
    Genes (Basel). 2021 Mar 5;12(3):370.
  143. Sait S.N., Wetzler M.
    Tetrasomy 9p with no apparent phenotypic characteristics.
    Am J Hum Genet.
    2003; 73:285.
  144. Charalsawadi C, Trongnit S, Jaruthamsophon K, Wirojanan J, Jaruratanasirikul S, Nitiruangjaras A, Limprasert P.
    No evidence of abnormal expression of beta-catenin and Bcl-2 proteins in pilomatricoma as one clinical feature of tetrasomy 9p syndrome.
    Int J Pediat 2021, 2021: 2612846.
  145. Maeda K, Morine M, Kaji T, Hayahi A, Tachibana A, Kondo A, Hinokio K.
    Prenatal diagnosis and sonographic findings of non-mosaic 9p tetrasomy.
    Ultrasound 2021 58 (S1): 168 - VP16.18.
  146. Mori MA, Gomar JL, Diaz de Bustamante A, Ananias A, Pinel I, Martinez-Frias ML.
    Partial duplication 16p resulting from a 3:1 segregation of a maternal reciprocal translocation.
    Am J Med Genet. 1987 Jan;26(1):203-6.
  147. Süleyman M, Oğuz S, Kaykı G, Çelik HT, Şimsek-Kiper PÖ, Utine GE, Yiğit Ş.
    A very rare case of a newborn with tetrasomy 9p and literature review.
    Turk J Pediatr. 2022;64(1):171-178.
  148. Kok Kilic G, Pariltay E, Karaca E, Durmaz B, Ekici H, Imamoglu M, Okmen F, Akin H, Cogulu O.
    Prenatal diagnosis of a case with tetrasomy 9p confirmed by cytogenetics, FISH, microarray analysis and review.
    Taiwan J Obstet Gynecol. 2022 Jan;61(1):122-126.
  149. Yu J, Chen N, Chen M, Shen M, Qian Y, Dong M.
    Case report: Prenatal diagnosis of fetal tetrasomy 9p initially identified by non-invasive prenatal testing.
    Front Genet. 2022 Oct 31;13:1020525.
  150. Wang Y, Lazier J, Myles-Reid D, Noor A, Chitayat D, Greenfeld E.
    Role of comprehensive cytogenomic investigation in successful reproductive outcome of parental small neocentromeric supernumerary ring chromosome: A case report.
    Clin Case Rep. 2023 Apr 23;11(4):e6632.
  151. Kambali M, Li Y, Unichenko P, Pliego JF, Yadav R, Liu J, McGuinness P, Cobb JG, Wang M, Nagarajan R, Lyu J, Vongsouthi V, Jackson CJ, Engin E, Coyle JT, Shin J, Talkowski ME, Homanics GE, Bolshakov VY, Henneberger C, Rudolph U.
    A marker chromosome in psychosis identifies glycine decarboxylase (GLDC) as a novel regulator of neuronal and synaptic function in the hippocampus.
    bioRxiv [Preprint]. 2023 May 29:2023.05.29.542745. doi: 10.1101/2023.05.29.542745.
  152. Zhuang Q, Yan M, Jiang Y, Chen X, Zhang N, Lyu C, Wu J, Wang Y.
    [Genetic analysis of a case with a supernumerary marker derived from chromosome 9].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Dec 10;39(12):1410-1414. Chinese.
  153. Yang Y, Hao W.
    Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis.
    Mol Cytogenet. 2023 Sep 4;16(1):23.
  154. Zhang S, Zhou Y, Xiao G, Qiu X.
    Application of various genetic analysis techniques for detecting two rare cases of 9p duplication mosaicism during prenatal diagnosis.
    Mol Genet Genomic Med. 2023 Oct;11(10):e2229.
  155. Chen CP, Chen SW, Chern SR, Wu PS, Wu FT, Pan YT, Lee CC, Pan CW, Chen YY, Wang W.
    Mosaic tetrasomy 9p at amniocentesis in a pregnancy associated with a favorable fetal outcome, perinatal progressive decrease of the aneuploid cell line and cytogenetic discrepancy in various tissues.
    Taiwan J Obstet Gynecol. 2023 Jan;62(1):148-154.
  156. Su L, Wu X, Liang B, Lin N, Xie X, Cai M, Zheng L, Wang M, Xu L.
    Fetal mosaicism, should conventional karyotype always be performed?
    J Obstet Gynaecol Res. 2023 Oct 16. doi: 10.1111/jog.15804. Epub ahead of print.