Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0026827 (
hypotonia
)
5,860
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A de novo translocation of 15q to 3p with complete monosomy of 15p and partial monosomy of 15q was detected by
trypsin
banding on peripheral lymphocytes of a 5-year-old boy with Prader-Willi syndrome (severe mental retardation, dyslalia, cryptorchidism, and muscular
hypotonia
). The pathogenic role of chromosome 15 abnormalities in the aetiology of this syndrome is discussed.
...
PMID:The Prader-Willi syndrome with a 15/3 translocation. 46 5
