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: EC:3.5.4.4 (
adenosine deaminase
)
5,136
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A first case of "pure"
trisomy 20q
(q11.2-qter) is described in a female child with minor anomalies and developmental delay. This resulted from the inheritance, from a carrier mother, of an abnormal X chromosome: der (X)t(X;20)(q28;q11.2). Involvement of other autosomes has complicated the interpretation of the phenotypic effect of
trisomy 20q
in previously published case reports. Red cell gene dosage studies using
adenosine deaminase
(
ADA
) have confirmed that the proposita is trisomic for 20q. Taken together with RBG staining studies, these results suggest that there is incomplete inactivation, if any, of the autosomal portion of the consistently late-replicating abnormal X. Unexpectedly,
ADA
gene dosage results in the carrier mother showed a level of gene expression about half that of normal controls.
...
PMID:Trisomy 20q caused by der (X)t(X;20)(q28;q11.2). 236 29
