Literature DB >> 4250982

An extra chromosomal centric fragment in an infant with stigmata of Down's syndrome.

I Subrt, H Prchlíková.   

Abstract

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Year:  1970        PMID: 4250982      PMCID: PMC1468936          DOI: 10.1136/jmg.7.4.407

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


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  11 in total

1.  DIVERSE CHROMOSOMAL ANOMALIES IN TWO SIBLINGS.

Authors:  K H GUSTAVSON; L ATKINS; I PATRICKS
Journal:  Acta Paediatr       Date:  1964-07       Impact factor: 2.299

2.  A PARTIAL MONGOL.

Authors:  T DENT; J H EDWARDS; J D DELHANTY
Journal:  Lancet       Date:  1963-09-07       Impact factor: 79.321

3.  MULTIPLE ANOMALIES ASSOCIATED WITH AN EXTRA SMALL AUTOSOME.

Authors:  A FROLAND; G HOLST; E TERSLEV
Journal:  Cytogenetics       Date:  1963

4.  MENTAL RETARDATION AND MULTPLE CONGENITAL ANOMALIES: ASSOCIATION WITH EXTRA SMALL METACENTRIC CHROMOSOME.

Authors:  P D TAFT; P R DODGE; L ATKINS
Journal:  Am J Dis Child       Date:  1965-06

5.  A chromosome abnormality with fragment in a paramongol child.

Authors:  B R MIGEON; B N KAUFMANN; W J YOUNG
Journal:  Bull Johns Hopkins Hosp       Date:  1962-10

6.  Incomplete trisomy in a mongoloid child exhibiting minimal stigmata.

Authors:  P L ILBERY; C W LEE; S M WINN
Journal:  Med J Aust       Date:  1961-07-29       Impact factor: 7.738

7.  A familial minute isochromosome.

Authors:  D Mukerjee; W J Burdette
Journal:  Am J Hum Genet       Date:  1966-01       Impact factor: 11.025

8.  An extra small metacentric chromosome in a mentally retarded boy.

Authors:  J Ishmael; K M Laurence
Journal:  J Med Genet       Date:  1968-12       Impact factor: 6.318

9.  A familial centric chromosome fragment.

Authors:  K D Smith; E Steinberger; S Steinberger; W H Perloff
Journal:  Cytogenetics       Date:  1965

10.  Possible autosomal isochromosome in a malformed child.

Authors:  R E Stevenson; R B Patterson; H O Goodman
Journal:  Am J Dis Child       Date:  1966-03
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  5 in total

1.  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

2.  Familial Down syndrome due to t(10;21) translocation: evidence that the Down phenotype is related to trisomy of a specific segment of chromosome 21.

Authors:  J D Williams; R L Summitt; P R Martens; R A Kimbrell
Journal:  Am J Hum Genet       Date:  1975-07       Impact factor: 11.025

Review 3.  Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis.

Authors:  M G Mattei; N Souiah; J F Mattei
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

4.  Significance of detection of extra metacentric microchromosome in amniotic cell culture.

Authors:  R Bernstein; C Hakim; B Hardwick; G T Nurse
Journal:  J Med Genet       Date:  1978-04       Impact factor: 6.318

5.  Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype.

Authors:  Maria Chiara Pelleri; Elena Cicchini; Chiara Locatelli; Lorenza Vitale; Maria Caracausi; Allison Piovesan; Alessandro Rocca; Giulia Poletti; Marco Seri; Pierluigi Strippoli; Guido Cocchi
Journal:  Hum Mol Genet       Date:  2016-04-22       Impact factor: 6.150

  5 in total

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