Literature DB >> 8340114

Clinical findings in patients with marker chromosomes identified by fluorescence in situ hybridization.

R Plattner1, N A Heerema, P N Howard-Peebles, J H Miles, S Soukup, C G Palmer.   

Abstract

Twenty-seven patients carrying marker chromosomes were previously collected, characterized by cytogenetic techniques, and identified by stepwise fluorescence in situ hybridization (FISH) with alpha-satellite DNA probes. Clinical features of 22 patients are described here and compared to other patients with marker chromosomes similarly identified and reported in the literature.

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Year:  1993        PMID： 8340114     DOI： 10.1007/bf00205086

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  21 in total

1.  Chromosomal origin of small ring marker chromosomes in man: characterization by molecular genetics.

Authors:  D F Callen; H J Eyre; M L Ringenbergs; C J Freemantle; P Woodroffe; E A Haan
Journal:  Am J Hum Genet       Date:  1991-04       Impact factor: 11.025

2.  De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints.

Authors:  D Warburton
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025

3.  The isochromosome 18p syndrome: confirmation of cytogenetic diagnosis in nine cases by in situ hybridization.

Authors:  D F Callen; C J Freemantle; M L Ringenbergs; E Baker; H J Eyre; D Romain; E A Haan
Journal:  Am J Hum Genet       Date:  1990-09       Impact factor: 11.025

4.  A case of 46,XX,r(X) (p1q1) diagnosed by in situ hybridization.

Authors:  J Koch; S Kølvraa; N Hobolt; G B Petersen; H F Willard; J S Waye; N Gregersen; L Bolund
Journal:  Clin Genet       Date:  1990-03       Impact factor: 4.438

5.  The genetic significance of accessory bisatellited marker chromosomes.

Authors:  P Steinbach; M Djalali; I Hansmann; E Kattner; M Meisel-Stosiek; H D Probeck; A Schmidt; M Wolf
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

6.  Preferential maternal derivation in inv dup(15): analysis of eight new cases.

Authors:  P Maraschio; O Zuffardi; F Bernardi; M Bozzola; C De Paoli; C Fonatsch; S D Flatz; L Ghersini; G Gimelli; M Loi; R Lorini; D Peretti; L Poloni; D Tonetti; R Vanni; G Zamboni
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

7.  Prader-Willi syndrome and a bisatellited derivative of chromosome 15.

Authors:  L P Wisniewski; M E Witt; F Ginsberg-Fellner; J Wilner; R J Desnick
Journal:  Clin Genet       Date:  1980-07       Impact factor: 4.438

8.  45,X/46,X,+r(X) can have a distinct phenotype different from Ullrich-Turner syndrome.

Authors:  M Grompe; N Rao; F F Elder; C T Caskey; F Greenberg
Journal:  Am J Med Genet       Date:  1992-01-01

9.  Small marker chromosomes in man: origin from pericentric heterochromatin of chromosomes 1, 9, and 16.

Authors:  D F Callen; M L Ringenbergs; J C Fowler; C J Freemantle; E A Haan
Journal:  J Med Genet       Date:  1990-03       Impact factor: 6.318

10.  Extra dicentric 15 pter leads to q21/22 chromosomes in five unrelated patients with a distinct syndrome of progressive psychomotor retardation, seizures, hyper-reactivity and dermatoglyphic abnormalities.

Authors:  M Zannotti; A Preto; P R Giovanardi; B Dallapiccola
Journal:  J Ment Defic Res       Date:  1980-12
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  10 in total

1.  Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis.

Authors:  J A Crolla; J F Harvey; F L Sitch; N R Dennis
Journal:  Hum Genet       Date:  1995-02       Impact factor: 4.132

Review 2.  Small extra ring chromosome derived from chromosome 10p: clinical report and characterisation by FISH.

Authors:  E Blennow; E Tillberg
Journal:  J Med Genet       Date:  1996-05       Impact factor: 6.318

3.  Rapid identification of multiple supernumerary ring chromosomes with a new FISH technique.

Authors:  C Mackie-Ogilvie; K Waddle; J Mandeville; M J Seller; Z Docherty
Journal:  J Med Genet       Date:  1997-11       Impact factor: 6.318

4.  Origins of accessory small ring marker chromosomes derived from chromosome 1.

Authors:  D F Callen; H Eyre; Y Y Fang; X Y Guan; A Veleba; N J Martin; J McGill; E A Haan
Journal:  J Med Genet       Date:  1999-11       Impact factor: 6.318

Review 5.  Inv dup(15) supernumerary marker chromosomes.

Authors:  T Webb
Journal:  J Med Genet       Date:  1994-08       Impact factor: 6.318

6.  Delineation of marker chromosomes by reverse chromosome painting using only a small number of DOP-PCR amplified microdissected chromosomes.

Authors:  R Viersbach; G Schwanitz; M M Nöthen
Journal:  Hum Genet       Date:  1994-06       Impact factor: 4.132

7.  Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH.

Authors:  P Stankiewicz; E Bocian; K Jakubów-Durska; E Obersztyn; E Lato; H Starke; K Mroczek; T Mazurczak
Journal:  J Med Genet       Date:  2000-02       Impact factor: 6.318

8.  Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15.

Authors:  A E Wandstrat; J Leana-Cox; L Jenkins; S Schwartz
Journal:  Am J Hum Genet       Date:  1998-04       Impact factor: 11.025

9.  Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications.

Authors:  J Leana-Cox; L Jenkins; C G Palmer; R Plattner; L Sheppard; W L Flejter; J Zackowski; F Tsien; S Schwartz
Journal:  Am J Hum Genet       Date:  1994-05       Impact factor: 11.025

10.  Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients.

Authors:  Joanna Pietrzak; Kristin Mrasek; Ewa Obersztyn; Pawel Stankiewicz; Nadezda Kosyakova; Anja Weise; Sau Wai Cheung; Wei Wen Cai; Ferdinand von Eggeling; Tadeusz Mazurczak; Ewa Bocian; Thomas Liehr
Journal:  J Appl Genet       Date:  2007       Impact factor: 3.240
  10 in total

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