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:C0019270 (
hernia
)
15,856
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Ring X chromosomes that do not undergo inactivation may cause malformations and mental retardation. We report on a fetus with anencephaly, total dorsal rachischisis, and diaphragmatic
hernia
that was found to have a mosaic 45,X/46,X,r(X)(
p11
.22q12) karyotype. Fluorescent in situ hybridization (FISH) confirmed that the ring chromosome was X-derived. This report expands the phenotypic spectrum of mosaic monosomy X and small ring X chromosomes.
...
PMID:Multiple congenital anomalies in a fetus with 45,X/46,X,r(X)(p11.22q12) mosaicism. 960 Jul 41
