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mFISH - WHOLE CHROMOSOME PAINTS

 

Clinical cytogenetics

 

mFISH with whole chromosome paints as probes is extensively applied in clinical cytogenetics.
For review see:

 

  • Li MM (2005) Advanced molecular and cytogenetic technologies in birth defect diagnosis and prevention. Beijing Da Xue Xue Bao 37:14-19.

 


Confirmation, refinement and/or characterization of translocations

 

  • Babic I, Brajenovic-Milic B, Petrovic O, Mustac E, Kapovic M (2007) Prenatal diagnosis of complete trisomy 19q. Prenat Diagn 27:644-647.
  • Balicek P, Juttnerova V, Jarosova M, Fialova J, Fiedler Z, Kolmanova J (2001) [Prenatal diagnosis of de novo complex balanced rearrangements in chromosomes 3,4, and 13] Cas Lek Cesk 140: 122-124. Czech.
  • Bartels I, Starke H, Argyriou L, Sauter SM, Zoll B, Liehr T (2007) An exceptional complex chromosomal rearrangement (CCR) with eight breakpoints involving four chromosomes (1;3;9;14) in an azoospermic male with normal phenotype. Eur J Med Genet 50:133-138
  • Castillo Taucher S, Fuentes AM, Paulos A, Pardo A (2002) [Multiple FISH and multiple BAND: Application of cytogenetic and molecular techniques in 5 cases] Rev Med Chil 130:511-518. Spanish
  • Chen CP, Lin SP, Lin CC, Li YC, Chern SR, Chen WM, Lee CC, Hsieh LJ, Wang W (2005) Perinatal findings and molecular cytogenetic analysis of de novo partial trisomy 16q (16q22.1-->qter) and partial monosomy 20q (20q13.3-->qter). Prenat Diagn 25:112-118.
  • Chen CP, Huang HK, Ling PY, Su YN, Chen M, Tsai FJ, Wu PC, Chern SR, Chen YT, Lee CC, Wang W (2011) A de novo duplication of chromosome 21q22.11→qter associated with Down syndrome: prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings. Taiwan J Obstet Gynecol 50:492-498.
  • Baruffi MR, de Souza DH, Bicudo da Silva RA, Ramos ES, Moretti-Ferreira D (2012) Autism spectrum disorder in a girl with a de novo X;19 balanced translocation. Case Rep Gene 2012:578018.
  • Belaud-Rotureau MA, Elghezal H, Bernardin C, Sanlaville D, Radford-Weiss I, Raoul O, Vekemans M, Romana SP (2003) [Spectral karyotyping (SKY) principle, avantages and limitations] Ann Biol Clin (Paris). 61:139-46. Review. French.
  • Borg I, Squire M, Menzel C, Stout K, Morgan D, Willatt L, O'Brien PC, Ferguson-Smith MA, Ropers HH, Tommerup N, Kalscheuer VM, Sargan DR (2002) A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation. J Med Genet 39:391-399
  • Catalina P, Montes R, Ligero G, Sanchez L, de la Cueva T, Bueno C, Leone PE, Menendez P (2008) Human ESCs predisposition to karyotypic instability: Is a matter of culture adaptation or differential vulnerability among hESC lines due to inherent properties? Mol Cancer 7:76.
  • Cetin Z, Berker Karaüzüm S, Yakut S, Mihçi E, Baumer A, Wey E, Taçoy S, Bağci G, Lüleci G (2005) M-FISH applications in clinical genetics. Genet Couns 16:257-268
  • Chen CP, Lin SP, Lin CC, Li YC, Hsieh LJ, Chern SR, Lee CC, Chen YJ, Wang W (2005) Spectral karyotyping, fluorescence in situ hybridization and molecular genetic analysis of de novo partial trisomy 7p (7p15.1 --> pter) and partial monosomy 9p (9p22 --> pter). Prenat Diagn 25:1170-1172.
  • Chen CP, Chern SR, Lee CC, Lin CC, Li YC, Hsieh LJ, Chen WL, Wang W (2005) Prenatal diagnosis of de novo t(2;18;14)(q33.1;q12.2;q31.2), dup(5)(q34q34), del(7)(p21.1p21.1), and del(10)(q25.3q25.3) and a review of the prenatally ascertained de novo apparently balanced complex and multiple chromosomal rearrangements. Prenat Diagn 26:138-146.
  • Chen CP, Lin SP, Lin CC, Li YC, Hsieh LJ, Huang JK, Lee CC, Wang W (2006) Spectral karyotyping and fluorescence in situ hybridization analysis of de novo partial trisomy 7p (7p21.2-->pter) and partial monosomy 12q (12q24.33-->qter). Genet Couns 17:57-63
  • Chen CP, Chen M, Chen CY, Chern SR, Wu PS, Chang SP, Kuo YL, Chen WL, Pan CW, Wang W (2013) Prenatal diagnosis and molecular cytogenetic characterization of de novo pure partial trisomy 6p associated with microcephaly, craniosynostosis and abnormal maternal serum biochemistry. Gene pii: S0378-1119(13)01697-1
  • De Krijger RR, Mooy CM, Van Hemel JO, Sulkers EJ, Kros JM, Bartelings MM, Govaerts LC (1999) CHARGE association-related ocular pathology in a newborn with partial trisomy 19q and partial monosomy 21q, from a maternal translocation (19;21) (q13.1;q22.3). Pediatr Dev Pathol 2: 577-581.
  • de Vree PJ, Simon ME, van Dooren MF, Stoevelaar GH, Hilkmann JT, Rongen MA, Huijbregts GC, Verkerk AJ, Poddighe PJ (2009) Application of molecular cytogenetic techniques to clarify apparently balanced complex chromosomal rearrangements in two patients with an abnormal phenotype: case report. Mol Cytogenet 2:15.
  • Dufke A, Singer S, Borell-Kost S, Stotter M, Pflumm DA, Mau-Holzmann UA, Starke H, Mrasek K, Enders H (2006) De novostructural chromosomal imbalances: molecular cytogenetic characterization of partial trisomies. Cytogenet Genome Res 114:342-350.
  • Dutta UR, Pidugu VK, Dalal A. (2013) Partial proximal trisomy 14: identification and molecular characterization in a girl with global developmental delay. Genet Couns 24:207-216.
  • Felbor U, Knötgen N, Schams G, Buwe A, Steinlein C, Schmid M (2004) Mosaicism for an ectopic NOR at 8pter and a complex rearrangement of chromosome 8 in a patient with severe psychomotor retardation. Cytogenet Genome Res 106:55-60.
  • Gadzicki D, Baumer A, Wey E, Happel CM, Rudolph C, Tönnies H, Neitzel H, Steinemann D, Welte K, Klein C, Schlegelberger B (2006) Jacobsen syndrome and Beckwith-Wiedemann syndrome caused by a parental pericentric inversion inv(11)(p15q24). Ann Hum Genet 70(Pt 6):958-964
  • Grabowski M, Fauth C, Wirtz A, Speicher MR (2000) Breakpoint within the nucleolus organizer region resulting in a reciprocal translocation t (4;14)(q21;p12). Am J Med Genet 92: 264-268.
  • Gutiérrez-Mateo C, Gadea L, Benet J, Wells D, Munné S, Navarro J (2005) Aneuploidy 12 in a Robertsonian (13;14) carrier: Case report. Hum Reprod 20:1256-1260
  • Heng HH, Ye CJ, Yang F, Ebrahim S, Liu G, Bremer SW, Thomas CM, Ye J, Chen TJ, Tuck-Muller C, Yu JW, Krawetz SA, Johnson A (2003) Analysis of marker or complex chromosomal rearrangements present in pre- and post-natal karyotypes utilizing a combination of G-banding, spectral karyotyping and fluorescence in situ hybridization. Clin Genet 63: 358-367.
  • Hernando C, Plaja A, Català V, Sarret E, Egozcue J, Fuster C (2004) Primary amenorrhea in a woman with a cryptic complex chromosome rearrangement involving the critical regions Xp11.2 and Xq24. Fertil Steril 82:1666-1671
  • Houge G, Liehr T, Schoumans J, Ness GO, Solland K, Starke H, Claussen U, Strømme P, Akre B, Vermeulen S (2003) Ten years follow up of a boy with a complex chromosomal rearrangement: going from a > 5 to 15-breakpoint CCR. Am J Med Genet A 118:235-240.
  • Imataka G, Arisaka O (2012) Chromosome analysis using spectral karyotyping (SKY). Cell Biochem Biophys 62:13-17.
  • Jalal SM, Law ME (1999) Utility of multicolor fluorescent in situ hybridization in clinical cytogenetics. Genet Med 1: 181-186.
  • Laus AC, Baratela WA, Laureano LA, Santos SA, Huber J, Ramos ES, Rebelo CC, Squire JA, Martelli L (2012) Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: case report and review of literature. Am J Med Genet A 158A:821-827.
  • Lee NC, Chen M, Ma GC, Lee DJ, Wang TJ, Ke YY, Chien YH, Hwu WL (2010) Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints. Am J Med Genet A 152A:2327-2334.
  • Lestou VS, O'Connell JX, Robichaud M, Salski C, Mathers J, Maguire J, Chudoba I, Sorensen PH, Lam W, Horsman DE (2002) Cryptic t(X;18), ins(6;18), and SYT-SSX2 gene fusion in a case of intraneural monophasic synovial sarcoma. Cancer Genet Cytogenet 138:153-156.
  • Kline AD, Griffin CA, Haddadin MH, Chudoba I, Morsberger LA, Hawkins AL, Amato RS, Munshi G, Cohen MM (2004) A de novo complex karyotype with two independent balanced translocations and a double inversion of chromosome 6 presenting with multiple congenital anomalies. Am J Med Genet A 129:124-129
  • Kotzot D, Holland H, Kohler M, Froster UG (2001) A complex chromosome rearrangement involving chromosome 8, 11, and 12 analyzed by conventional cytogenetic investigations, fluorescence in situ hybridisation, and spectral karyotyping. Ann Genet 44: 135-138.
  • Kuechler A, Ziegler M, Blank C, Rommel B, Bullerdiek J, Ahrens J, Claussen U, Liehr T (2005) A highly complex chromosomal rearrangement between five chromosomes in a healthy female diagnosed in preparation for intracytoplasmatic sperm injection. J Histochem Cytochem 53:355-357.
  • Luo Y, Shen M, Qian Y, Chen Y, Xu C, Jin F (2009) [Genetic analysis of a complex chromosome rearrangement involving two chromosomes and four breakpoints in an azoospermic man.] Zhonghua Yi Xue Yi Chuan Xue Za Zhi 26:200-202. Chinese.
  • Matthaei A, Werner W, Gerlach EM, Koerner U, Tinschert S, Nitz I, Herr A, Rump A, Bartsch O, Hinkel KG, Schröck E, Oexle K (2005) Small reciprocal insertion detected by spectral karyotyping (SKY) and delimited by array-CGH analysis. Eur J Med Genet 48:328-338
  • Matsumura M, Kubota T, Hidaka E, Wakui K, Kadowaki S, Ueta I, Shimizu T, Ueno I, Yamauchi K, Herzing LB, Nurmi EL, Sutcliffe JS, Fukushima Y, Katsuyama T (2003) 'Severe' Prader-Willi syndrome with a large deletion of chromosome 15 due to an unbalanced t(15,22)(q14;q11.2) translocation. Clin Genet 63: 79-81.
  • McNeil N, Ried T (2000) Novel molecular cytogenetic techniques for identifying complex chromosomal rearrangements: technology and applications in molecular medicine. Expert Rev Mol Med 2000:1-14
  • Mergenthaler-Gatfield S, Holzgreve W, Hahn S (2008) Spectral Karyotyping (SKY): Applications in Prenatal Diagnostics. Methods Mol Biol 444:3-26.
  • Midro AT, Panasiuk B, Stasiewicz-Jarocka B, Iwanowski PS, Fauth C, Speicher MR, Lesniewicz R (2000) Risk estimates for carriers of chromosome reciprocal translocation t(4;9)(p15.2;p13). Clin Genet 58: 153-155.
  • Nowakowska B, Bocian E (2004) [Molecular cytogenetic techniques and their application in clinical diagnosis] Med Wieku Rozwoj 8:7-24. Review. Polish.
  • Ocak Z, Surucu R (2012) Molecular cytogenetic characterization of a case of primary amenorrhea with intrachromosomal triplication of the X chromosome q arm. Genet Couns 23:297-304.
  • Peschka B, Leygraaf J, Hansmann D, Hansmann M, Schröck E, Ried T, Engels H, Schwanitz G, Schubert R (1999) Analysis of a de novo complex chromosome rearrangement involving chromosomes 4, 11, 12 and 13 and eight breakpoints by conventional cytogenetic, fluorescence in situ hybridization and spectral karyotyping. Prenat Diagn 19: 1143-1149.
  • Petek E, Wagner K, Steiner H, Schaffer H, Kroisel PM (2000) Prenatal diagnosis of partial trisomy 4q26-qter and monosomy for the Wolf-Hirschhorn critical region in a fetus with split hand malformation. Prenat Diagn 20: 349-352.
  • Peterson SE, Westra JW, Paczkowski CM, Chun J (2008) Chromosomal mosaicism in neural stem cells. Methods Mol Biol 438:197-204.
  • Phelan MC, Blackburn W, Rogers RC, Crawford EC, Cooley NR, Schröck E, Ning Y, Ried T (1998) FISH analysis of a complex chromosome rearrangement involving nine breakpoints on chromosomes 6, 12, 14 and 16. Prenat Diagn 18: 1174-1180.
  • Qian WP, Tan YQ, Tjia WM, Song D, Guan XY, Lu GX (2005) [Molecular cytogenetic analysis for a familial complex chromosomal rearrangement] Zhonghua Yi Xue Yi Chuan Xue Za Zhi 22:302-304. Chinese
  • Reddy KS, Sulcova V, Young H, Blancato JK, Haddad BR (1999) De novo mosaic add(3) characterized to be trisomy 14q31-qter using spectral karyotyping and subtelomeric probes. Am J Med Genet 82: 318-321.
  • Ried T (1997) Images in neuroscience. Am J Psychiatry 154: 594.
  • Röthlisberger B, Kotzot D, Brecevic L, Koehler M, Balmer D, Binkert F, Schinzel A (1999) Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes. Eur J Hum Genet 7: 873-883.
  • Rosenberg C, Knijnenburg J, Chauffaille Mde L, Brunoni D, Catelani AL, Sloos W, Szuhai K, Tanke HJ (2005) Array CGH detection of a cryptic deletion in a complex chromosome rearrangement. Hum Genet 116:390-394.
  • Schmidt H, Uhrig S, Lederer G, Murken J, Speicher MR, Schuffenhauer S (2000) Mosaicism for a dup(12)(q22q13) in a patient with hypomelanosis of Ito and asymmetry. J Med Genet 37: 804-807.
  • Schmidt T, Bierhals T, Kortüm F, Bartels I, Liehr T, Burfeind P, Shoukier M, Frank V, Bergmann C, Kutsche K (2014) Branchio-Otic syndrome caused by a genomic rearrangement: clinical findings and molecular cytogenetic studies in a patient with a pericentric inversion of chromosome 8. Cytogenet Genome Res 142:1-6.
  • Schoumans J, Ruivenkamp C, Holmberg E, Kyllerman M, Anderlid BM, Nordenskjöld M (2005) Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH). J Med Genet 42:699-705
  • Schröck E, Veldman T, Padilla-Nash H, Ning Y, Spurbeck J, Jalal S, Shaffer LG, Papenhausen P, Kozma C, Phelan MC, Kjeldsen E, Schonberg SA, O'Brien P, Biesecker L, du Manoir S, Ried T (1997) Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities. Hum Genet 101: 255-262.
  • Schwarzbraun T, Ullmann R, Schubert M, Ledinegg M, Ofner L, Windpassinger C, Wagner K, Kroisel PM, Petek E (2006) Characterization of a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12, associated with mental retardation and impaired speech development. Cytogenet Genome Res 115:84-89
  • Seidel J, Heller A, Senger G, Starke H, Chudoba I, Kelbova C, Tönnies H, Neitzel H, Haase C, Beensen V, Zintl F, Claussen U, Liehr T (2003) A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behavior disorder characterized comprehensively by molecular cytogenetics-Case report and review of the literature Europ. J. Pedriat 162: 582-588.
  • Song HL, Chen BJ, Fang Q, Xie YJ, Lin SB, Wu JZ (2012) [Spectral karyotyping of seven prenatally detected marker chromosomes and complex chromosome aberrations]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 29:393-397.
  • Takano T, Yamanouchi Y, Tanaka F (2003) True hermaphroditism with 46,X,+22p/46,XY and gonadal mosaicism detected by fluorescence in situ hybridization. Ann Genet 46:57-60.
  • Tanemura M, Suzumori K, Nishikawa N, Ishihara Y (2001) Multicolour spectral karyotyping for complex chromosomal rearrangements in repeated abortion or congenital anomalies. Prenat Diagn. 21: 1123-1128.
  • Thienpont B, Gewillig M, Fryns JP, Devriendt K, Vermeesch J (2006) Molecular cytogenetic characterization of a constitutional complex intrachromosomal 4q rearrangement in a patient with multiple congenital anomalies. Cytogenet Genome Res 114:338-341.
  • Trimborn M, Liehr T, Belitz B, Pfeiffer L, Varon R, Neitzel H, Tönnies H (2005) Prenatal diagnosis and molecular cytogenetic characterization of an unusual complex structural rearrangement in a pregnancy following intracytoplasmic sperm injection (ICSI). J Histochem Cytochem 53:351-354
  • Uhrig S, Schuffenhauer S, Fauth C, Wirtz A, Daumer-Haas C, Apacik C, Cohen M, Müller-Navia J, Cremer T, Murken J, Speicher MR (1999) Multiplex-FISH for pre- and postnatal diagnostic applications. Am J Hum Genet 65: 448-462.
  • Une T, Yokoyama Y, Ninomiya S, Shinozuka M, Maruyama H, Morishima T (2006) Assessment of molecular cytogenetic methods for the detection of chromosomal abnormalities. Acta Med Okayama 60:279-287
  • Utine GE, Thoelen R, Peeters H, Vermeesch J, Fryns JP (2005) Partial trisomy 11q syndrome (11q23.1-->11qter) due to de novo t (11q; 13q) detected by multicolor fluorescence in situ hybridisation. Genet Couns 16:291-295
  • Velagaleti GV, Jalal SM, Michaelis RC, Rowe TF, Nichols JR, Lockhart LH (2003) Molecular cytogenetic characterization of a de novo unbalanced translocation leading to trisomy 17q25-->qter and monosomy 18p11.3-->pter in a girl with dysmorphic features. Clin Dysmorphol 12:29-33
  • Velinov M, Gu H, Yeboa K, Warburton D, Tubo T, Dhuper S, Lanter S, Delprino D, Kupchik G, Jenkins EC (2002) Hypoplastic left heart in a female infant with partial trisomy 4q due to de novo 4;21 translocation. Am J Med Genet 107: 330-333.
  • Vermeulen S, Menten B, Van Roy N, Van Limbergen H, De Paepe A, Mortier G, Speleman F (2004) Molecular cytogenetic analysis of complex chromosomal rearrangements in patients with mental retardation and congenital malformations: delineation of 7q21.11 breakpoints. Am J Med Genet A 124:10-18.
  • Vundinti BR, Korgaonkar S, Ghosh K (2012) De novo origin of multiple small supernumerary marker chromosomes (sSMCs) in a child with intellectual disability and dysmorphic features. Gene 498:128-130.
  • Wu HH, Lee TH, Chen CD, Yeh KT, Chen M (2007) Delineation of an isodicentric Y chromosome in a mosaic 45,X/46,X,idic(Y)(qter-p11.3::p11.3-qter) fetus by SRY sequencing, G-banding, FISH, SKY and study of distribution in different tissues. J Formos Med Assoc 106:403-410.
  • Xie YJ, Chen BJ, Wu JZ, Chen Z, Lin SB, Fang Q (2011) [Combined use of molecular cytogenetic techniques to detect a small chromosomal translocation]. Yi Xue Yi Chuan Xue Za Zhi 28:568-571. Chinese.
  • Zhu H, Hu Y, Zhu R, Yang Y, Zhu X, Wang W (2013) A boy with partial trisomy of chromosome 3q24-q28 from paternal balanced insertion and multiple congenital anomalies. Am J Med Genet A 161A:327-330.

Cryptic rearrangements

 

  • Abe Y, Tanaka D, Soga T, Takeuchi T, Iikura Y (2003) A case of de novo distal duplication of chromosome 15. Clin Genet. 63: 76-78.
  • Anderlid BM, Schoumans J, Anneren G, Sahlen S, Kyllerman M, Vujic M, Hagberg B, Blennow E, Nordenskjold M (2002) Subtelomeric rearrangements detected in patients with idiopathic mental retardation. Am J Med Genet 107: 275-284.
  • Bezrookove V, Hansson K, van der Burg M, van der Smagt JJ, Hilhorst-Hofstee Y, Wiegant J, Beverstock GC, Raap AK, Tanke H, Breuning MH, Rosenberg C (2000) Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH. Hum Genet 106: 392-398.
  • Clarkson B, Pavenski K, Dupuis L, Kennedy S, Meyn S, Nezarati MM, Nie G, Weksberg R, Withers S, Quercia N, Teebi AS, Teshima I (2002) Detecting rearrangements in children using subtelomeric FISH and SKY. Am J Med Genet 107: 267-274.
  • De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, Novara F, Vetro A, Rossi E, Maraschio P, Bonaglia MC, Anichini C, Ferrero GB, Silengo M, Fazzi E, Zatterale A, Fischetto R, Previderé C, Belli S, Turci A, Calabrese G, Bernardi F, Meneghelli E, Riegel M, Rocchi M, Guerneri S, Lalatta F, Zelante L, Romano C, Fichera M, Mattina T, Arrigo G, Zollino M, Giglio S, Lonardo F, Bonfante A, Ferlini A, Cifuentes F, Van Esch H, Backx L, Schinzel A, Vermeesch JR, Zuffardi O (2007) Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet 44:750-762
  • Fan YS, Siu VM, Jung JH, Xu J (2000) Sensitivity of multiple color spectral karyotyping in detecting small interchromosomal rearrangements. Genet Test 4:9-14.
  • Granzow M, Popp S, Keller M, Holtgreve-Grez H, Brough M, Schoell B, Rauterberg-Ruland I, Hager HD, Tariverdian G, Jauch A (2000) Multiplex FISH telomere integrity assay identifies an unbalanced cryptic translocation der(5)t(3;5)(q27;p15.3) in a family with three mentally retarded individuals. Hum Genet 107: 51-57.
  • Hemann MT, Strong MA, Hao LY, Greider CW (2001) The shortest telomere, not average telomere length, is critical for cell viability and chromosome stability. Cell 107: 67-77.
  • Hsieh LJ, Hsieh TC, Yeh GP, Lin MI, Chen M, Wang BB (2004) Prenatal diagnosis of a fetus affected with Down syndrome and deletion 1p36 syndrome by fluorescence in situ hybridization and spectral karyotyping. Fetal Diagn Ther 19: 356-60.
  • Holinski-Feder E, Reyniers E, Uhrig S, Golla A, Wauters J, Kroisel P, Bossuyt P, Rost I, Jedele K, Zierler H, Schwab S, Wildenauer D, Speicher MR, Willems PJ, Meitinger T, Kooy RF (2000) Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3). Am J Hum Genet 66: 16-25.
  • Jalal SM, Law ME, Lindor NM, Thompson KJ, Sekhon GS (2001) Application of multicolor fluorescent in situ hybridization for enhanced characterization of chromosomal abnormalities in congenital disorders. Mayo Clin Proc 76: 16-21.
  • Koseki N, Obara Y, Ookawa A, Katsumi M, Funato T, Kaku M (2001) [A case of 9p-syndrome identified chromosome 20 on chromosome 9p by M-FISH] Rinsho Byori. 49: 1045-1048. Japanese.
  • Leppig KA, Ball S, Au K, Opheim KE, Norwood T (2000) Familial cryptic (20;21) translocation identified by in situ hybridization technologies Am J Med Genet 93:273-277.
  • Levy B, Jalal SM, Dunn TM, Warburton PE, Tonk VS, Hirschhorn K, Lockhart LH, Hughes T, Velagaleti GV (2002) Unique case of mosaicism involving two morphologically similar marker chromosomes of different centric origin in a patient with developmental delay. Am J Med Genet 108: 198-204.
  • Marquez C, Cohen J, Munne S (1998) Chromosome identification in human oocytes and polar bodies by spectral karyotyping. Cytogenet Cell Genet 81: 254-258.
  • Morelli SH, Deubler DA, Brothman LJ, Carey JC, Brothman AR (1999) Partial trisomy 17p detected by spectral karyotyping. Clin Genet 55: 372-375.
  • Musio A, Mariani T, Montagna C, Zambroni D, Ascoli C, Ried T, Vezzoni P (2004) Recapitulation of the Roberts syndrome cellular phenotype by inhibition of INCENP, ZWINT-1 and ZW10 genes. Gene. 2004 Apr 28;331:33-40.
  • Reddy KS, Fugate JK (1999) A half cryptic derivative der(18)t(5;18)pat identified by M-FISH and subtelomere probes: clinical findings and review of subtelomeric rearrangements. Clin Genet 56: 328-332.
  • Schröck E, du Manoir S, Veldman T, Schoell B, Wienberg J, Ferguson-Smith MA, Ning Y, Ledbetter DH, Bar-Am I, Soenksen D, Garini Y, Ried T (1996) Multicolor spectral karyotyping of human chromosomes. Science 273: 494-497.
  • Schröck E, Frensel A, Gerlach E, Stadler A, Hackmann K, Tinschert S, Werner S (2008) Fluorescence in situ hybridization in human genetic diagnostics. Medgen 20: 361-366. (German)
  • Willadsen S, Levron J, Munne S, Schimmel T, Marquez C, Scott R, Cohen J (1999) Rapid visualization of metaphase chromosomes in single human blastomeres after fusion with in-vitro matured bovine eggs. Hum Reprod 14: 470-475.

 


Marker chromosomes

 

  • 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 (2012)Spectral karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory. Mol Cytogenet 5:3.
  • Bakshi SR, Brahmbhatt MM, Trivedi PJ, Chudoba I (2006) Constitutional tetrasomy 18p. Indian Pediatr 43:357-360
  • Cetin Z, Berker Karaüzüm S, Yakut S, Mihçi E, Baumer A, Wey E, Taçoy S, Bağci G, Lüleci G (2005) M-FISH applications in clinical genetics. Genet Couns 16:257-268
  • Chen CP, Lin CC, Su YN, Tsai FJ, Chen JT, Chern SR, Lee CC, Town DD, Chen LF, Wu PC, Wang W (2010) Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 18 and associated with a reciprocal translocation involving chromosomes 17 and 18. Taiwan J Obstet Gynecol 49:188-191.
  • Chen CP, Chen M, Ko TM, Ma GC, Tsai FJ, Tsai MS, Wu PC, Lee CC, Chen LF, Wang W (2010) Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 8. Taiwan J Obstet Gynecol 49:500-505.
  • Chen CP, Chen M, Su YN, Tsai FJ, Chern SR, Wu PC, Chen WL, Chen LF, Pan CW, Wang W (2011) Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 4. Taiwan J Obstet Gynecol 50:188-195.
  • Chen CP, Chen M, Chern SR, Wu PS, Chang SP, Lee DJ, Chen YT, Chen LF, Su JW, Hwa-Ruey Hsieh A, Hwa-Jiun Hsieh A, Wang W (2012) Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 2. Taiwan J Obstet Gynecol 51:411-417.
  • Chen CP, Chang SD, Su YN, Chen M, Chern SR, Su JW, Chen YT, Chen WL, Pan CW, Lee MS, Wang (2012) Rapid positive confirmation of mosaicism for a small supernumerary marker chromosome as r(8) by interphase fluorescence in situ hybridization, quantitative fluorescent polymerase chain reaction, and array comparative genomic hybridization on uncultured amniocytes in a pregnancy with fetal pyelectasis. Taiwan J Obstet Gynecol 51:405-410.
  • Chen CP, Chen M, Su YN, Huang JP, Chern SR, Wu PS, Su JW, Chang SP, Chen YT, Lee CC, Chen LF, Pan CW, Wang W (2013) Mosaic small supernumerary marker chromosome 1 at amniocentesis: prenatal diagnosis, molecular genetic analysis and literature review. Gene 529:169-175.
  • Constantinou M, Płowás I, Kałuzewski B (2007) Trisomy of medial 15q as result of an analphoid supernumerary ring chromosome detected by CGH and FISH. Cytogenet Genome Res 119:165-169.
  • Dutta UR, Pidugu VK, Dalal A (2013) Partial proximal trisomy 14: identification and molecular characterization in a girl with global developmental delay. Genet Couns 24:207-216.
  • Gole LA, Biswas A (2005) Characterization of a small supernumerary marker chromosome as r(8) at prenatal diagnosis by MFISH. Prenat Diagn 25:73-78.
  • Guanciali-Franchi P, Calabrese G, Morizio E, Fantasia D, Colosimo A, Rinaldi MM, Cristini L, Simonelli A, Lonardo F, Turci A, Zatterale A, Laganà C, Stuppia L, Sabatino G, Palka G (2004) Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis. Am J Med Genet A 127:144-148.
  • Haddad BR, Schröck E, Meck J, Cowan J, Young H, Ferguson-Smith MA, du Manoir S, Ried T (1998) Identification of de novo chromosomal markers and derivatives by spectral karyotyping. Hum Genet 103: 619-625.
  • Heng HH, Ye CJ, Yang F, Ebrahim S, Liu G, Bremer SW, Thomas CM, Ye J, Chen TJ, Tuck-Muller C, Yu JW, Krawetz SA, Johnson A (2003) Analysis of marker or complex chromosomal rearrangements present in pre- and post-natal karyotypes utilizing a combination of G-banding, spectral karyotyping and fluorescence in situ hybridization. Clin Genet 63: 358-367.
  • Huang B, Ning Y, Lamb AN, Sandlin CJ, Jamehdor M, Ried T, Bartley J (1998) Identification of an unusual marker chromosome by spectral karyotyping. Am J Med Genet 80: 368-372.
  • Laus AC, Baratela WA, Laureano LA, Santos SA, Huber J, Ramos ES, Rebelo CC, Squire JA, Martelli L (2012) Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: case report and review of literature. Am J Med Genet A 158A:821-827.
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  • Liberati M, Melchiorre K, D'Emilio I, Guanciali-Franchi PE, Iezzi I, Rotmensch S, Celentano C (2008) Fetal facial profile in Pallister-Killian syndrome. Fetal Diagn Ther 23:15-17
  • Liehr T, Utine GE, Trautmann U, Rauch A, Kuechler A, Pietracz J, Bocian E, Kosyakova N, Mrasek K, Boduroglu K, Weise A, Aktas D (2007) Neocentric small supernumerary marker chromosomes (sSMC) - three more cases plus review of the literature. Cytogenet Genome Res 118: 31-37.
  • Lin CC, Hsieh YY, Wang CH, Li YC, Hsieh LJ, Lee CC, Tsai CH, Tsai FJ (2006) Prenatal detection and characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 22 with apparently normal phenotype. Prenat Diagn 26:898-902.
  • Mauer B, Haaf T, Stourt K, Reissmann N, Steinlein C, Schmid M (2001) Two supernumerary marker chromosomes, originating from chromosomes 6 and 11, in a child with developmental delay and craniofacial dysmorphism. Cytogenet Cell Genet 93: 182-187.
  • Ning Y, Laundon CH, Schröck E, Buchanan P, Ried T (1999) Prenatal diagnosis of a mosaic extra structurally abnormal chromosome by spectral karyotyping. Prenat Diagn 19: 480-482.
  • Niksic SB, Deretic VI, Pilic GR, Ewers E, Merkas M, Ziegler M, Liehr T (2010) Trisomy 21 with a small supernumerary marker chromosome derived from chromosomes 13/21 and 18. Balk J Med Genet 13:55-58.
  • Novelli A, Ceccarini C, Bernardini L, Zuccarello D, Digilio MC, Mingarelli R, Dallapiccola B (2005) Pure trisomy 19p syndrome in an infant with an extra ring chromosome. Cytogenet Genome Res 111: 182-185.
  • Pacanaro AN, Christofolini DM, Kulikowski LD, Belangero SI, da Silva Bellucco FT, Varela MC, Koiffmann CP, Yoshimoto M, Squire JA, Schiavon AV, Heck B, Melaragno MI (2010) A rare case of trisomy 15pter-q21.2 due to a de novo marker chromosome. Am J Med Genet A 152A:753-758.
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  • Sarri C, Gyftodimou Y, Grigoriadou M, Pandelia E, Kalogirou S, Kokotas H, Mrasek K, Weise A, Petersen MB (2006) Supernumerary marker chromosome 5 diagnosed by M-FISH in a child with congenital heart defect and unusual face. Cytogenet Genome Res 114:330-337.
  • Song HL, Chen BJ, Fang Q, Xie YJ, Lin SB, Wu JZ (2012) [Spectral karyotyping of seven prenatally detected marker chromosomes and complex chromosome aberrations]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 29:393-397.
  • Starke H, Schreyer I, Kahler C, Fiedler W, Beensen V, Heller A, Nietzel A, Claussen U, Liehr T (1999) Molecular cytogenetic characterization of a prenatally detected supernumerary minute marker chromosome 8. Prenat Diagn 19: 1169-1174.
  • Sung PL, Chang SP, Wen KC, Chang CM, Yang MJ, Chen LC, Chao KC, Huang CY, Li YC, Lin CC (2009) Small supernumerary marker chromosome originating from chromosome 10 associated with an apparently normal phenotype. Am J Med Genet A 149A:2768-2774.
  • Tönnies H, Gerlach A, Heineking B, Starke H, Neitzel H, Neumann LM (2006) Molecular cytogenetic identification and characterization of a de novo supernumerary neocentromeric derivative chromosome 13. Cytogenet Genome Res 114:325-329.
  • Tseng JJ, Chou MM, Lo FC, Lai HY, Chen MH, Ho ES (2009) Prenatal diagnosis of extrastructurally abnormal chromosomes: clinical experience and literature review. J Chin Med Assoc 72:29-33.
  • Tsuchiya KD, Opheim KE, Hannibal MC, Hing AV, Glass JA, Raff ML, Norwood T, Torchia BA (2008) Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization. Molecular Cytogenetics 1:7
  • Vermeesch JR, Petit P, Dutra A, Schröck E, Ried T, Fryns JP (1999) A mosaic extra ring chromosome 4 in a female patient with postnatal overgrowth. Genet Coun 10: 195-196.
  • Yaron Y, Carmon E, Goldstein M, Voskoboinik N, Ochshorn Y, Gelman-Kohan Z, Orr-Urtreger A (2003) The clinical application of spectral karyotyping (SKY trade mark) in the analysis of prenatally diagnosed extra structurally abnormal chromosomes (ESACs). Prenat Diagn 23: 74-79.
  • Vulcani-Freitas TM, Gil-da-Silva-Lopes VL, Varella-Garcia M, Maciel-Guerra AT. (2006) Infertility and marker chromosomes: Application of molecular cytogenetic techniques in a case of inv dup(15). J Appl Genet. 2006;47(1):89-91.
  • Wang W, Hu Y, Zhu H, Li J, Zhu R, Wang YP (2009) A case of an infertile male with a small supernumerary marker chromosome negative for M-FISH and containing only heterochromatin. J Assist Reprod Genet 26:291-295.
  • Zhang A, Zheng C, Hou M, Lindvall C, Li KJ, Erlandsson F, Bjorkholm M, Gruber A, Blennow E, Xu D (2003) Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndrome. Am J Hum Genet 72:940-948.
  • Zung A, Rienstein S, Rosensaft J, Aviram-Goldring A, Zadik Z (2007) Proximal 19q trisomy: a new syndrome of morbid obesity and mental retardation. Horm Res 67:105-110.

 


Pre-gestational genetics / PGD

 

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  • Hassold T, Hunt P (2001) To err (meiotically) is human: the genesis of human aneuploidy. Nat Rev Genet 2: 280-291.
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  • Moralli D, Yusuf M, Mandegar MA, Khoja S, Monaco ZL, Volpi EV (2011) An improved technique for chromosomal analysis of human ES and iPS cells. Stem Cell Rev 7:471-477.
  • Moralli D, Monaco ZL (2015) Developing de novo human artificial chromosomes in embryonic stem cells using HSV-1 amplicon technology. Chromosome Res 23:105-110.
  • Osada T, Kakazu N, Watanabe M, Yamane H, Yagi T (2009) The chromosomal constitution of postmitotic neurons, assessed by neuronal nuclear transfer into oocytes and in ES cell lines derived from them. Cytogenet Genome Res 125:201-212.
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