Literature DB >> 668715

Multiple skeletal anomalies in the "13q-" syndrome.

J Chemke, E Fishel, M Zalish, M Sagiv.   

Abstract

A patient with the "13q-" syndrome is reported. The typical association of congenital malformations was found. Multiple and unusual skeletal anomalies included absent thumbs, club-feet, coxa vara, diastasis of the pubic symphisis and extensive spina bifida occulta. These appear to be part of the multiple system involvement due to the chromosomal deletion. Chromosome analysis is indicated in patients with multiple skeletal anomalies, especially if the thumbs and radial axis are involved.

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Mesh：

Year:  1978        PMID： 668715     DOI： 10.1007/BF00496923

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  9 in total

1.  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

2.  Chromosomal deletion and retinoblastoma.

Authors:  A G Knudson; A T Meadows; W W Nichols; R Hill
Journal:  N Engl J Med       Date:  1976-11-11       Impact factor: 91.245

3.  Retinoblastoma and D-chromosome deletions.

Authors:  M G Wilson; J W Towner; A Fujimoto
Journal:  Am J Hum Genet       Date:  1973-01       Impact factor: 11.025

4.  A rapid banding technique for human chromosomes.

Authors:  M Seabright
Journal:  Lancet       Date:  1971-10-30       Impact factor: 79.321

5.  Retinoblastoma and long arm delection of chromosome 13. Attempts to define the deleted segment.

Authors:  E Orye; M J Delbeke; B Vandenabeele
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

6.  The 13q- deletion syndrome.

Authors:  E Grace; J Drennan; D Colver; R R Gordon
Journal:  J Med Genet       Date:  1971-09       Impact factor: 6.318

7.  The 13q-deletion syndrome.

Authors:  P W Allderdice; J G Davis; O J Miller; H P Klinger; D Warburton; D A Miller; F H Allen; C A Abrams; E McGilvray
Journal:  Am J Hum Genet       Date:  1969-09       Impact factor: 11.025

8.  Partial deletion of the long arm of chromosome no. 13.

Authors:  A Cuschieri; P V Agius; J M Scheres
Journal:  Hum Genet       Date:  1977-05-10       Impact factor: 4.132

9.  Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations.

Authors:  B Noel; B Quack; M O Rethore
Journal:  Clin Genet       Date:  1976-06       Impact factor: 4.438
  9 in total
  2 in total

1.  Partial monosomy 13q and partial trisomy 18p: case report with necropsy findings.

Authors:  D Beneck; M A Greco; S R Wolman; L E McMorrow; V Jansen; J Cason
Journal:  J Med Genet       Date:  1986-06       Impact factor: 6.318

2.  Triple mosaicism 45,XY,--18/46, XY/47,XY,+18.

Authors:  M Frydman; F Shabtai; Y Barak; I Halbrecht; E Elian
Journal:  J Med Genet       Date:  1979-06       Impact factor: 6.318
  2 in total

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