Unbound MEDLINE

Syndromes associated with deletion of the long arm of chromosome 18[del(18q)]. American journal of medical genetics. [Am J Med Genet] Journal article

 
TitleSyndromes associated with deletion of the long arm of chromosome 18[del(18q)].
Author(s)Wilson MG, Towner JW, Forsman I, Siris E 
SourceAm J Med Genet 1979; 3(2):155-74.
MeSHAbnormalities, Multiple
Adolescent
Child
Child, Preschool
Chromosome Banding
Chromosome Deletion
Chromosomes, Human, 16-18
Chromosomes, Human, 6-12 and X
Face
Female
Growth Disorders
Humans
Immunoglobulins
Infant
Karyotyping
Male
Mental Retardation
Research Support, U.S. Gov't, P.H.S.
Syndrome
Translocation, Genetic
AbstractWe studied eight persons whose karyotypes demonstrated deletion of a portion of the long arm of chromosome 18. Seven of these persons who showed the typical del(18q) syndrome had a common deletion in band 18q21, most likely band q21.3, and in at least two persons the deletion was interstitial. Another mentally retarded child, dissimilar in appearance, had a more proximal deletion within band 18q12. Two different clinical syndromes resulted from deletions of these different segments of the long arm of chromosome 18.
Languageeng
Pub Type(s)Case Reports
Journal Article
PubMed ID474629
  
Advertise on this site.