ChromosOmics - Database

Icon by Leon Liehr                  

                                                     - REFERENCES for X -                                                              

      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 unpublished data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. Liehr T, Beensen V, Hauschild R, Ziegler M, Hartmann I, Starke H, Heller A, Kahler C, Schmidt M, Reiber W, Hesse M, Claussen U.
    Pitfalls of rapid prenatal diagnosis using the interphase nucleus.
    Prenat Diagn. 2001 May;21(5):419-421.
  3. Nietzel A, Rocchi M, Starke H, Heller A, Fiedler W, Wlodarska I, Loncarevic IF, Beensen V, Claussen U, Liehr T.
    A new multicolor-FISH approach for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH).
    Hum Genet. 2001 Mar;108(3):199-204.
  4. Liehr T, Nietzel A, Rocchi M, Heller A, Starke H, Claussen U, v Eggeling F.
    Centromere-specific multicolor-FISH (cenM-FISH) followed by analysis for uniparental disomy - a useful tool in prenatal diagnosis.
    In: Early prenatal diagnosis, fetal cells and DNA in the mother - present state and perpectives.
    The Karolinum Press, Prag, 2002, pp 293-300, ISBN: 80-246-0397-7.
  5. Bettio D, Rizzi N, Giardino D, Gurrieri F, Silvestri G, Grugni G, Larizza L.
    FISH characterization of small supernumerary marker chromosomes in two Prader-Willi patients.
    Am J Med Genet. 1997 Jan 10;68(1):99-104
  6. Callen DF, Eyre HJ, Ringenbergs ML, Freemantle CJ, Woodroffe P, Haan EA.
    Chromosomal origin of small ring marker chromosomes in man: characterization by molecular genetics.
    Am J Hum Genet. 1991 Apr;48(4):769-82. Erratum in: Am J Hum Genet 1991 Aug;49(2):503.
  7. Daniel A, Malafiej P, Preece K, Chia N, Nelson J, Smith M.
    Identification of marker chromosomes in thirteen patients using FISH probing.
    Am J Med Genet. 1994 Oct 15;53(1):8-18.
  8. Wiktor A, Van Dyke DL, Weiss L.
    Characterization of a de novo 48,XX,+r(X),+r(17) by in situ hybridization in a patient with neurofibromatosis (NF1).
    Am J Med Genet. 1993 Jan 1;45(1):22-24.
  9. Silahtaroglu AN, Hacihanefioglu S, Yilmaz S, Tarkan Y, Cenani A, Tümer Z.
    A small supernumerary marker chromosome X identified by in situ hybridization.
    Clin Genet. 1995 May;47(5):270-273.
  10. Rauch A, Pfeiffer RA, Trautmann U, Liehr T, Rott HD, Ulmer R.
    A study of ten small supernumerary (marker) chromosomes identified by fluorescence in situ hybridization (FISH).
    Clin Genet. 1992 Aug;42(2):84-90.
  11. Lin CC, Meyne J, Sasi R, Bowen P, Unger T, Tainaka T, Hadro TA, Hoo JJ.
    Determining the origins and the structural aberrations of small marker chromosomes in two cases of 45,X/46,X, + mar by use of chromosome-specific DNA probes.
    Am J Med Genet. 1990 Sep;37(1):71-78.
  12. 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.
  13. Le Caignec C, Boceno M, Joubert M, Winer N, Aubron F, Fallet-Bianco C, Rival JM.
    Prenatal diagnosis of a small supernumerary, XIST-negative, mosaic ring X chromosome identified by fluorescence in situ hybridization in an abnormal male fetus.
    Prenat Diagn. 2003 Feb;23(2):143-145.
  14. Callen DF, Eyre HJ, Dolman G, Garry-Battersby MB, McCreanor JR, Valeba A, McGill JJ.
    Molecular cytogenetic characterisation of a small ring X chromosome in a Turner patient and in a male patient with congenital abnormalities: role of X inactivation.
    J Med Genet. 1995 Feb;32(2):113-116.
  15. Duncan AM, Macdonald A, Brown CJ, Wolff D, Willard HF, Sutton B.
    Characterization of a small supernumerary ring X chromosome by fluorescence in situ hybridization.
    Am J Med Genet. 1993 Dec 1;47(8):1153-1156.
  16. Wydner KL, Li M, Singer-Granick C, Sciorra LJ, Krueger LJ.
    X microchromosome with additional chromosome anomalies found in Ullrich-Turner syndrome.
    Am J Med Genet. 1995 Mar 27;56(2):141-146.
  17. Guttenbach M, Kohler J, Schmid M.
    Cytogenetic and molecular characterization of a small ring chromosome in the complex karyotype of a girl with Turner syndrome.
    Hum Genet. 1991 Oct;87(6):680-684.
  18. Manea SR, Gershin IF, Babu A, Willner JP, Desnick RJ, Cotter PD.
    Mosaicism for a small supernumerary ring X chromosome in a dysmorphic, growth-retarded male: mos47,XXY/48,XXY, +r(X).
    Clin Genet. 1997 Dec;52(6):432-435.
  19. Stavropoulou C, Mignon C, Delobel B, Moncla A, Depetris D, Croquette MF, Mattei MG.
    Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study.
    J Med Genet. 1998 Nov;35(11):932-938.
  20. Migeon BR, Luo S, Stasiowski BA, Jani M, Axelman J, Van Dyke DL, Weiss L, Jacobs PA, Yang-Feng TL, Wiley JE.
    Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes.
    Proc Natl Acad Sci U S A. 1993 Dec 15;90(24):12025-12029.
  21. Huang B, Lamb A, Dorian A, Brumblay J, Powell B.
    Small supernumerary ring X chromosome in a four-month-old girl.
    Am J Med Genet. 1999 Jul 16;85(2):191-193.
  22. Tümer Z, Wolff D, Silahtaroglu AN, Orum A, Brondum-Nielsen K.
    Characterization of a supernumerary small marker X chromosome in two females with similar phenotypes.
    Am J Med Genet. 1998 Feb 26;76(1):45-50.
  23. Amiel A, Fejgin M, Appelman Z, Shapiro I, Gaber E, Bachar A, Zamir R, Kedar I, Golbus M.
    Fluorescent in-situ hybridization (FISH) as an aid to marker chromosome identification in prenatal diagnosis.
    Eur J Obstet Gynecol Reprod Biol. 1995 Mar;59(1):103-107.
  24. Roper EC, Williams JW, Barnes IC, Clouston HJ, Parker MJ
    Prenatal rapid FISH analysis: a cautionary tale.
    J Med Gen 2004;41(Sup 1):S60 - Abstractno. 2.38
  25. Choy YS, Ruziana A, Tan SK, Ngu LH, Keng WT, Hussain IHM
    Hypomelanosis of Ito associated with de novo Extra Structurally Abnormal Chromosomes.
    Abstractbook of the 54th annual meeting of the American Society of Human Genetics, 26.-30. 10. 2004, 147 (Abstractnumber 717).
  26. Jenny K, Gadi I, Morrissette JJD, Powell B, Gripp KW.
    A fourth case further delineates the phenotype of a rare karyotyope abnormality: 46,XX/47,XX,+r(X).
    Abstracts of the 55th annual meeting of the American Society of Human Genetics, 25.-29. 10. 2005, p151 (Abstractno. 742)
  27. Liehr T, Mrasek K, Weise A, Dufke A, Rodriguez L, Martinez Guardia N, Sanchis A, Vermeesch JR, Ramel C, Polityko A, Haas OA, Anderson J, Claussen U, von Eggeling F, Starke H.
    Small supernumerary marker chromosomes--progress towards a genotype-phenotype correlation.
    Cytogenet Genome Res. 2006;112(1-2):23-34.
  28. Chen CP, Lin SP, Lin CC, Li YC, Hsieh LJ, Chern SR, Lee CC, Chen LF, Hua HM, Wang W.
    Prenatal diagnosis of low-level mosaicism for a small XIST-negative supernumerary ring X chromosome in a nondysmorphic male fetus.
    Prenat Diagn. 2006 Apr;26(4):387-391.
  29. Numabe H, Ohasgi H, Mitsui N, Kawashima H, Hayashi S, Imoto I, Inzawa J, Kosugi S
    Small supernumerary X chromosome in a boy with mild phenotype.
    Abstract band of the 11th international congress of human genetics, 06-11.08.2006, Brisbane, Australia, p 172, Abstract 1145.
  30. Yu S, Barbouth D, Benke PJ, Warburton PE, Fan YS.
    Characterization of a neocentric supernumerary marker chromosome originating from the Xp distal region by FISH, CENP-C staining, and array CGH.
    Cytogenet Genome Res 2007;116:141-145.
  31. Backx L, Van Esch H, Melotte C, Kosyakova N, Starke H, Frijns JP, Liehr T, Vermeesch JR.
    Array painting using microdissected chromosomes to map chromosomal breakpoints.
    Cytogenet Genome Res. 2007;116(3):158-166.
  32. Douet-Guilbert N, Marical H, Pinson L, Herry A, Le Bris MJ, Morel F, De Braekeleer M.
    Characterisation of supernumerary chromosomal markers: a study of 13 cases.
    Cytogenet Genome Res. 2007;116(1-2):18-23.
  33. Alkhayyat H, Christesen HB, Steer J, Stewart H, Brusgaard K, Hussain K.
    Mosaic Turner syndrome and hyperinsulinaemic hypoglycaemia.
    J Pediatr Endocrinol Metab. 2006 Dec;19(12):1451-1457.
  34. Esclaire, Terro F, Bourthoumieu S, Bardel M, Aubard V, Le Caignec C, Yardin C.
    Small supernumerary  marker chromosomes: cytogenetic  identification, molecular characterization and correlation with the phenotype.
    Chr Res 2007, Vol 15 Suppl. 1, p 98 (Abstractnr. 1.172-P)
  35. Wolff DJ, Brown CJ, Schwartz S, Duncan AM, Surti U, Willard HF.
    Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations.
    Am J Hum Genet. 1994 Jul;55(1):87-95.
  36. 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.
  37. Koç A, Yirmibeş Karaoğuz M, Pala E, Kan D, Karaer K, Gücüyener K, Perçin EF.
    A boy with small supernumerary marker chromosome X identified by FISH.
    Genet Couns. 2007;18(4):393-399.
  38. Saunders C, Kats A, Yu S, Cooley L, Strenk M, Jones J, Friez M, Ardinger H.
    Male infant with congenital SMA and Xq11.1 triplication.
    ASHG 2009; abstract only online, information from poster.
  39. Hunter M, Bruno D, Amor DJ.
    Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment.
    Am J Med Genet A. 2009 Aug;149A(8):1763-0176.
  40. 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.
  41. Santos M, Mrasek K, Madrigal I, Martorell MR, González-Meneses A, Rodríguez-Criado G, Milà M, Liehr T, Fuster C.
    Characterization of a complex cryptic mosaicism for an sSMC derived from the X chromosome present in a boy with congenital malformations.
    Am J Med Genet A. 2010 152A:2661-2663.
  42. Baker PR, Tsai AC, Springer M, Swisshelm K, March J, Brown K, Bellus G.
    Male with mosaicism for supernumerary ring X chromosome: analysis of phenotype and characterization of genotype using array comparative genome hybridization.
    J Craniofac Surg. 2010 Sep;21(5):1369-1375.
  43. Evers C, Jungwirth MS, Morgenthaler J, Hinderhofer K, Maas B, Janssen JW, Jauch A, Hehr U, Steinbeisser H, Moog U.
    Craniofrontonasal syndrome in a male due to chromosomal mosaicism involving EFNB1: further insights into a genetic paradox.
    Clin Genet. 2014 Apr;85(4):347-353.
  44. Neira VA, Romero-Espinoza P, Rojas-Martínez A, Ortiz-López R, Córdova-Fletes C, Plaja A, Barros-Núñez P.
    De novo MECP2 disomy in a Mexican male carrying a supernumerary marker chromosome and no typical Lubs syndrome features.
    Gene. 2013 Jul 25;524(2):381-385.
  45. Galanina EM, Tulupov AA, Lemskaya NA, Korostyshevskaya AM, Maksimova YV, Shorina AR, Savelov AA, Sergeeva IG, Isanova ER, Grishchenko IV, Yudkin DV.
    A female patient with FMR1 premutation and mosaic X chromosome aneuploidy and two sons with intellectual disability.
    Mol Syndromol. 2017 Mar;8(2):110-114.
  46. Nishi MY, Faria Júnior JAD, Krepischi ACV, de Moraes DR, da Costa SS, Silva ESDN, Costa EMF, Mendonca BB, Domenice S.
    A small supernumerary Xp marker chromosome including genes NR0B1 and MAGEB causing partial gonadal dysgenesis and gonadoblastoma.
    Sex Dev. 2022;16(1):55-63.