Literature DB >> 890110

Trisomy 5: delineation of clinical features.

J H DiLiberti, R McKean, M J Webb, G Williams.   

Abstract

Partial trisomy for the short arm of chromosome No. 5 appears to result in an identifiable syndrome. Major features include characteristic facial appearance, mental and growth retardation, seizures, and an excess of ulnar loops. Less certain features may include strabismus and an absence of major congenital malformations. The translocation present in this family from the short arm of chromosome No. 5 to the short arm of No. 4 has, to the best of our knowledge, not been reported previously [6].

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Year:  1977        PMID: 890110

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN: 0547-6844


  3 in total

1.  "Complete" trisomy 5p; de novo translocation t(2;5)(q36;p11) with isochromosome 5p. Case report and review of the literature.

Authors:  N J Leschot; K S Lim
Journal:  Hum Genet       Date:  1979-02-15       Impact factor: 4.132

2.  Trisomy 5p syndrome.

Authors:  A Rodewald
Journal:  J Med Genet       Date:  1979-10       Impact factor: 6.318

3.  Trisomy 5p: a second case occurring in a previously described kindred.

Authors:  M Vowles; A McDermott; I Janota
Journal:  J Med Genet       Date:  1984-04       Impact factor: 6.318

  3 in total

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