Terminal or interstitial deletion in chromosome 8 long arm in Langer-Giedion syndrome (TRP II syndrome)?

E M Bühler; U K Bühler; R Christen

doi:10.1007/BF00327117

Terminal or interstitial deletion in chromosome 8 long arm in Langer-Giedion syndrome (TRP II syndrome)?

Hum Genet. 1983;64(2):163-6. doi: 10.1007/BF00327117.

Authors

E M Bühler, U K Bühler, R Christen

PMID: 6885052
DOI: 10.1007/BF00327117

Abstract

Reexamination with high resolution banding of the first ever published case of Langer-Giedion syndrome with 8q deletion as well as chromosome examination of a second case of this syndrome with different high resolution methods, confirmed our previous assumption of a terminal 8q involvement in the causation of TRP II syndrome.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Child, Preschool
Chromosome Banding
Chromosome Deletion*
Chromosomes, Human, 6-12 and X / ultrastructure*
Fingers / abnormalities*
Hair / abnormalities*
Humans
Male
Nose / abnormalities*
Syndrome