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Efficient identification of marker chromosomes in 27 patients by stepwise hybridization with alpha-satellite DNA probes

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Abstract

Using a procedure involving stepwise hybridization of alpha-satellite DNA probes at various conditions of stringency, 33 marker chromosomes from 27 patients were identified. The markers were ascertained prenatally in fetal amniotic fluid and chorionic villi samples or postnatally in blood from liveborn children. The marker chromosomes first were characterized by cytogenetic techniques and later identified by fluorescence in situ hybridization. There were 14 bisatellited markers, 3 metacentric nonsatellited marker chromosomes, 2 nonsupernumerary sex-chromosomal rings, and 9 patients carrying markers that appeared to be small rings. Multiple stringency conditions were used for the identification of 14 supernumerary ringlike chromosomes detected in 8 patients. Ring-like markers were initially screened at low stringency and grouped into alpha-satellite families. Subsequent higher stringency hybridization led to marker identification. Ringlike chromosomes originated from chromosomes 1, 2, 8, 12, 13 or 21, 14 or 22, 15, 18, and X. Multiple ringlike markers ascertained in a single patient were determined to originate from different chromosomes.

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References

  • Alexandrov IA, Mitkevich SP, Yurov YB (1988) The phylogeny of human chromosome-specific alpha satellites. Chromosoma 96:443–453

    Google Scholar 

  • Balicek P, Zizka J, Lichy J (1976) An isochromosome of the short arms of the no. 18 chromosome in a mentally retarded girl. Clin Genet 9:192–196

    Google Scholar 

  • Blennow E, Nielsen KB (1991) Molecular identification of small supernumerary marker chromosome by in situ hybridization: diagnosis of an isochromosome 18p with probe L1. 84. Clin Genet 39:429–433

    Google Scholar 

  • Block K, Ising G, Stahl F (1990) Minichromosomes in Drosophila melanogaster derived from the transposing element TE1. Chromosoma 99:336–343

    Google Scholar 

  • Buckton KE, Spowart G, Newton MS, Evans HJ (1985) Forty-four probands with an addition “marker” chromosome. Hum Genet 69:353–370

    Google Scholar 

  • Callen DF, Ringenbergs ML, Fowler JCS, Freemantle CJ, Haan EA (1990a) Small marker chromosomes in man: origin from pericentric heterochromatin of chromosomes 1, 9, and 16. J Med Genet 27:155–159

    Google Scholar 

  • Callen DF, Freemantle CJ, Ringenbergs ML, Baker E, Eyre HJ, Romain D, Haan EA (1990b) The isochromosome 18p syndrome: confirmation of cytogenetic diagnosis in nine cases by in situ hybridization. Am J Hum Genet 47:493–498

    Google Scholar 

  • Callen DF, Eyre HJ, Ringenbergs ML, Freemantle CJ, Woodroffe P, Haan EA (1991) Chromosomal origin of small ring marker chromosomes in man: characterization by molecular genetics. Am J Hum Genet 48:769–782

    Google Scholar 

  • Chudley AE, Zheng HZ, Pabello PD, Shia G, Wang HC (1983) Familial supernumerary microchromosome mosaicism: phenotypic effects and an attempt at characterization. Am J Med Genet 16:89–97

    Google Scholar 

  • Condron CJ, Cantwell RJ. Kaufman RL, Bown SB, Warren RJ (1974) The supernumerary isochromosome 18 syndrome (+18pi). Birth Defects 10:36–42

    Google Scholar 

  • Crolla JA, Smith M, Docherty Z (1989) Identification and characterization of a small marker chromosome using non-isotopic in situ hybridization with X and Y specific probes. J Med Genet 26:192–194

    Google Scholar 

  • Devilee P, Cremer T, Slagboom P, Bakker E, Scholl HP, Hager HD, Stevenson AFG, Cornelisse CJ, Pearson PK (1986) Two subsets of human alphoid repetitive DNA show distinct preferential localization in the pericentric regions of chromosomes 13, 18 and 21. Cytogenet Cell Genet 41:193–201

    Google Scholar 

  • Durfy SJ, Willard HF (1990) Concerted evolution of primate alphasatellite DNA. J Mol Biol 216:555–566

    Google Scholar 

  • Goodpasture C, Bloom SE (1975) Visualization of nucleolar organizer regions in mammalian chromosomes using silver staining. Chromosoma 53:37–50

    Google Scholar 

  • Gray KM White JW, Constanzi C, Gillespie D, Schroeder WT, Calabretta B, Saunders GF (1985) Recent amplification of alpha-satellite DNA in humans. Nucleic Acids Res 13:521–535

    Google Scholar 

  • Higgins MJ, Wang H, Shtromas I, Haliotis T, Roder JC, Holden JJA, White BN (1985) Organization of a repetitive human 1. 8kg KpnI sequence localized in the heterochromatin of chromosome 15. Chromosoma 93:77–86

    Google Scholar 

  • Hoo JJ, Lin CC (1988) Invited editorial comment: multiple variablesized minute marker chromosomes. Am J Med Genet 29:361–363

    Google Scholar 

  • Johnson GD, Nogueira Araujo GMC (1981) A simple method of reducing fading of immunofluorescence during microscopy. J Irnmunol Methods 43:349–350

    Google Scholar 

  • Jorgensen AL, Kolvraa S, Jones C, Bak AL (1988) A subfamily of alphoid repetitive DNA shared by the NOR-bearing human chromosomes 14 and 22. Genomics 3:1–11

    Google Scholar 

  • Koch J, Kolvraa S, Hobolt N, Petersen GB, Willard HF. Waye JS, Gregersen N, Bolund L (1990) A case of 46,XX,r(X)(p1q1) diagnosed by in situ hybridization. Clin Genet 37:216–220

    Google Scholar 

  • Lin CC, Meyne J, Sasi R, Bowen P, Unger T, Tainaka T, Hadro TA, Hoo JJ (1990) 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 37:71–78

    Google Scholar 

  • Mascarello JT, Jones MC, Chambers SR (1987) A patient with extreme variation in number and size of small marker chromosomes. Hum Genet 75:191–194

    Google Scholar 

  • Masumoto H, Sugimoto K, Okazaki T (1989) Alphoid satellite DNA is tightly associated with centromere antigens in human chromosomes throughout the cell cycle. Exp Cell Res 181:181–196

    Google Scholar 

  • Mattei MG, Philip N, Passage E, Moisan JP, Mandel JL. Mattei JF (1985) DNA probe localization at 18p11. 3 band by in situ hybridization and identification of a small supernumerary chromosome. Hum Genet 69:268–271

    Google Scholar 

  • McDermid HE, Duncan AE, Brasch KR, Holden JJA, Magenis E, Sheehy R, Burn J, Kardon N, Noel B, Schinzel A, Tshima I, White BN (1986) Characterization of the supernumerary chromosome in cat-eye syndrome. Science 232:656–648

    Google Scholar 

  • Montanaro V, Casamassimi A, D'Urso M, Yoon JY, Freije W, Schlessinger D, Muenke M, Nussbaum RL, Saccone S, Maugeri S, Santoro AM, Motta S, Valle GD (1991) In situ hybridization to cytogenetic bands of yeast artificial chromosomes covering 50% of human Xq24-Xq28 DNA. Am J Hum Genet 48:183–194

    Google Scholar 

  • Misra R, Shih A, Rush M (1987) Cloned extrachromosomal circular DNA copies of the human transposable element THE-1 are related predominantly to a single type of family member. J Mol Biol 196:233–243

    Google Scholar 

  • Muratani K, Toshikazu H, Yamamoto Y, Kaneko T, Shigeto Y, Ohue T, Furuyama J, Higashino K (1991) Inactivation of the cholinesterase gene by Alu insertion: possible mechanism for human gene transposition. Proc Natl Acad Sci USA 88:11315–11319

    Google Scholar 

  • Neitzel H (1986) A routine method for the establishment of permanent growing lymphoblastoid cell lines. Hum Genet 73:320–326

    CAS  PubMed  Google Scholar 

  • Ogata K, Iinuma K, Kamimura K, Morinaga R, Kato J (1977) A case report of a presumptive +i(18p) associated with serum IgA deficiency. Clin Genet 11:184–188

    Google Scholar 

  • Plattner R, Heerema NA, Patil SR, Howard-Peebles PN, Palmer CG (1991) Characterization of seven DA/DAPI-positive bisatellited marker chromosomes by in situ hybridization. Hum Genet 87:290–296

    Google Scholar 

  • Rocchi M, Stormi M, Archidiacono N, Filippi G (1979) Extra small metacentric chromosome identified as i(18p). J Med Genet 16:69–80

    Google Scholar 

  • Salamanca F, Armendares S (1974) C bands in human metaphase chromosomes treated with barium hydroxide. Ann Genet 17:135–136

    Google Scholar 

  • Schreck RR, Breg WR, Erlanger BF, Miller OJ (1977) Preferential derivation of abnormal human G-group-like chromosomes from chromosome 15. Hum Genet 36:1–12

    Google Scholar 

  • Schweizer D, Ambros P, Andrle M (1978) Modification of DAPI banding on human chromosomes by prestaining with a DNA binding of ligopeptide antibiotic, distamycin A. Exp Cell Res 111:327–332

    Google Scholar 

  • Seabright M (1971) A rapid banding technique for human chromosomes. Lancet II:971–972

    Google Scholar 

  • Singer TS, Kohn G, Yatziv S (1990) Tetrasomy 18p in a child with trisomy 18 phenotype. Am J Med Genet 36:144–147

    Google Scholar 

  • Smeets DFCM, Merkx GFM, Hopman AHM (1991) Frequent occurrence of translocations of the short arm of chromosome 15 to other D-group chromosomes. Hum Genet 87:45–48

    Google Scholar 

  • Thompson J, Sylvester JE, Gonzalez IL, Costanzi CC, Gillespie D (1989) Definition of s second dimeric subfamily of human alphasatellite DNA. Nucleic Acids Res 17:2769–2782

    Google Scholar 

  • Tozzi C, Calvieri F, Alesi L, Ncri G (1989) Multiple “marker” chromosomes: a novel cytogenetic finding in a patient with mental retardation and congenital anomalies. Am J Med Genet 29:353–359

    Google Scholar 

  • Trask B, Pinkel D (1990) Fluorescence in situ hybridization with DNA probes. Methods Cell Biol 33:383–400

    Google Scholar 

  • Warburton D (1991) De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet 49:995–1013

    Google Scholar 

  • Waye JS, Willard HF (1989) Concerted evolution of alpha satellite DNA: evidence for species specificity and a general lack of sequence conservation among alphoid sequences of higher primates. Chromosoma 98:273–279

    CAS  PubMed  Google Scholar 

  • Willard HF (1990) Alpha and beta satellite sequences on chromosome21:the possible role of centromere and chromosome structure in nondisjunction. Prog Clin Biol Res 360:39–52

    Google Scholar 

  • Yurov YB, Mitkevich SP, Alexandrov IA (1987) Application of cloned satellite DNA sequences to molccular-cytogenetic analysis of constitutive heterochromatin heteromorphisms in man. Hum Genet 76:157–164

    Google Scholar 

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Authors and Affiliations

  1. Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 West Walnut Street, 46202, Indianapolis, IN, USA

    Rina Plattner, Nyla A. Heerema & Catherine G. Palmer

  2. All-Union Research Center of Mental Health, Academy of Medical Sciences of USSR, Zargorodnoe sh.2, 113152, Moscow, USSR

    Yuri B. Yurov

Authors
  1. Rina Plattner
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  2. Nyla A. Heerema
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  3. Yuri B. Yurov
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  4. Catherine G. Palmer
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Plattner, R., Heerema, N.A., Yurov, Y.B. et al. Efficient identification of marker chromosomes in 27 patients by stepwise hybridization with alpha-satellite DNA probes. Hum Genet 91, 131–140 (1993). https://doi.org/10.1007/BF00222713

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  • DOI: https://doi.org/10.1007/BF00222713

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