Literature DB >> 3469138

A patient with extreme variation in number and size of small marker chromosomes.

J T Mascarello, M C Jones, S R Chambers.   

Abstract

We describe extensive variation in the morphology and number of small marker chromosomes in a young girl whose most significant clinical findings were pulmonic stenosis, neck webbing, proptosis, camptodactyly, and developmental delay. Many of the markers had a ring structure. Some were clearly rod-shaped chromosomes with varying arm ratios and others were so small that we could not determine their structure.

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Year:  1987        PMID： 3469138     DOI： 10.1007/BF00591086

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


  16 in total

1.  Cytological evidence for switches in polarity of chromosomal DNA.

Authors:  S Wolff; D L Lindsley; W J Peacock
Journal:  Proc Natl Acad Sci U S A       Date:  1976-03       Impact factor: 11.205

2.  The Production of Homozygous Deficient Tissues with Mutant Characteristics by Means of the Aberrant Mitotic Behavior of Ring-Shaped Chromosomes.

Authors:  B McClintock
Journal:  Genetics       Date:  1938-07       Impact factor: 4.562

3.  High resolution of human chromosomes.

Authors:  J J Yunis
Journal:  Science       Date:  1976-03-26       Impact factor: 47.728

4.  Staining of some specific regions of human chromosomes, particularly the secondary constriction of No. 9.

Authors:  M Bobrow; K Madan; P L Pearson
Journal:  Nat New Biol       Date:  1972-07-26

5.  Identification of human chromosomes by DNA-binding fluorescent agents.

Authors:  T Caspersson; L Zech; C Johansson; E J Modest
Journal:  Chromosoma       Date:  1970       Impact factor: 4.316

6.  Heterochromatic nature of W chromosome in birds.

Authors:  K Stefos; F E Arrighi
Journal:  Exp Cell Res       Date:  1971-09       Impact factor: 3.905

7.  Comparative behavior of ring chromosomes.

Authors:  M L Kistenmacher; H H Punnett
Journal:  Am J Hum Genet       Date:  1970-05       Impact factor: 11.025

8.  A technique for the simultaneous staining of both nucleolar organizer regions and kinetochores of human chromosomes with silver.

Authors:  T E Denton; W R Brooke; W M Howell
Journal:  Stain Technol       Date:  1977-11

9.  The ring nature of a tiny supernumerary chromosome fragment.

Authors:  J J Hoo; M Drummond; M I Parslow; D Chambers
Journal:  Am J Med Genet       Date:  1980

10.  Visualization of nucleolar organizer regions im mammalian chromosomes using silver staining.

Authors:  C Goodpasture; S E Bloom
Journal:  Chromosoma       Date:  1975-11-20       Impact factor: 4.316
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  3 in total

1.  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

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

Authors:  R Plattner; N A Heerema; Y B Yurov; C G Palmer
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132

3.  Multiple minute marker chromosomes derived from Y identified by FISH in an intersexual infant.

Authors:  L Diekmann; K Palm; R A Pfeiffer; U Trautmann; W Scholz; E Schroers; P Vogt; M Köhler
Journal:  Hum Genet       Date:  1992 Sep-Oct       Impact factor: 4.132
  3 in total

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