Literature DB >> 4231673

An unusual karyotype in a patient with signs suggestive of Down's syndrome.

W J Pepler, M Smith, W A van Niekerk.   

Abstract

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Year:  1968        PMID： 4231673      PMCID： PMC1468619          DOI： 10.1136/jmg.5.1.68

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  7 in total

1.  ENLARGED SHORT ARM OF A SMALL ACROCENTRIC CHROMOSOME IN GRANDFATHER, MOTHER AND CHILD, THE LATTER WITH DOWN'S SYNDROME.

Authors:  A J THERKELSEN
Journal:  Cytogenetics       Date:  1964

2.  CYTOGENETICS OF DOWN'S SYNDROME (MONGOLISM). 3. FREQUENCY OF INTERCHANGE OF TRISOMICS AND MUTATION RATE OF CHROMOSOME INTERCHANGES.

Authors:  P E POLANI; J L HAMERTON; F GIANNELLI; C O CARTER
Journal:  Cytogenetics       Date:  1965

3.  Chromosome studies in detection of parents with high risk of second child with Down's syndrome.

Authors:  J L HAMERTON; S M BRIGGS; F GIANNELLI; C O CARTER
Journal:  Lancet       Date:  1961-10-07       Impact factor: 79.321

4.  Chromosome preparations of leukocytes cultured from human peripheral blood.

Authors:  P S MOORHEAD; P C NOWELL; W J MELLMAN; D M BATTIPS; D A HUNGERFORD
Journal:  Exp Cell Res       Date:  1960-09       Impact factor: 3.905

5.  Chromosomal abnormalities in father and Mongol child.

Authors:  M FRACCARO; K KAIJSER; J LINDSTEN
Journal:  Lancet       Date:  1960-04-02       Impact factor: 79.321

6.  [Study of somatic chromosomes from 9 mongoloid children].

Authors:  J LEJEUNE; M GAUTIER; R TURPIN
Journal:  C R Hebd Seances Acad Sci       Date:  1959-03-16

7.  The drumsticks of polymorphonuclear leucocytes in sex-chromosome abnormalities.

Authors:  N MACLEAN
Journal:  Lancet       Date:  1962-06-02       Impact factor: 79.321
  7 in total
  2 in total

1.  A further example of familial Gp+ associated with trisomy G.

Authors:  I Subrt
Journal:  Humangenetik       Date:  1970

2.  The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation.

Authors:  Armand Valsesia; Aurélien Macé; Sébastien Jacquemont; Jacques S Beckmann; Zoltán Kutalik
Journal:  Front Genet       Date:  2013-05-30       Impact factor: 4.599
  2 in total

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