Literature DB >> 527246

Complete and partial trisomy of different segments of chromosome 8: case reports and review.

R M Fineman, R C Ablow, W R Breg, S D Wing, J S Rose, S L Rothman, J Warpinski.   

Abstract

This report describes some of the clinical, chromosomal and radiological findings in three unrelated patients with trisomy 8 mosaicism syndrome (T8ms), two first cousins with trisomy 8q and a patient with trisomy 8p. On the basis of the phenotypic and cytogenetic findings seen in our six patients and those noted in previous reports, we concur with Riccardi & Crandall (1978) that most physical malformations seen in T8ms are associated with trisomy for the long arm of chromosome 8.

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Year:  1979        PMID: 527246     DOI: 10.1111/j.1399-0004.1979.tb01347.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  14 in total

Review 1.  Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardation.

Authors:  M J Pettenati; N Rao; C Johnson; R Hayworth; K Crandall; O Huff; I T Thomas
Journal:  Hum Genet       Date:  1992-08       Impact factor: 4.132

2.  Trisomy 8p: unusual origin detected by fluorescence in situ hybridization.

Authors:  C M Moore; K Barnum; C I Kaye; K S Kagan-Hallett; J C Liang
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

3.  The coagulation factor VII regulator is located on 8p23.1.

Authors:  K Fagan; I Wilkinson; M Allen; S Brownlea
Journal:  Hum Genet       Date:  1988-08       Impact factor: 4.132

4.  A child with a recombinant of chromosome 8 inherited from her carrier mother.

Authors:  I C Barnes; D Kumar; R J Bell
Journal:  J Med Genet       Date:  1985-02       Impact factor: 6.318

Review 5.  Absence makes the search grow longer.

Authors:  W B Dobyns
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

6.  Regional mapping of clotting factors VII and X to 13q34. Expression of factor VII through chromosome 8.

Authors:  J de Grouchy; M D Dautzenberg; C Turleau; S Beguin; F Chavin-Colin
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

7.  Phenotype of partial trisomy 8 (p21 leads to qter) in two unrelated patients with de novo translocation.

Authors:  E S Sachs; G van Waveren
Journal:  J Med Genet       Date:  1981-06       Impact factor: 6.318

8.  Absent right atrioventricular connection and double-inlet ventricle due to an unbalanced familial 8:13 chromosome translocation: a cautionary tale.

Authors:  J Burn; M Baraitser; D T Hughes; P Saldana-Garcia; J F Taylor
Journal:  Pediatr Cardiol       Date:  1984 Jan-Mar       Impact factor: 1.655

9.  FRAXF in a patient with chromosome 8 duplication.

Authors:  A M Vianna-Morgante; R C Mingroni-Netto; A C Barbosa; P A Otto; C Rosenberg
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

10.  Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.

Authors:  Chayim Can Schell-Apacik; Kristina Wagner; Moritz Bihler; Birgit Ertl-Wagner; Uwe Heinrich; Eva Klopocki; Vera M Kalscheuer; Maximilian Muenke; Hubertus von Voss
Journal:  Am J Med Genet A       Date:  2008-10-01       Impact factor: 2.802

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