Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 19-year-old phenotypic female with primary amenorrhea and 45X,0/46X,Y chromosomal mosaicism was found to have asymmetrical gonadal dysgenesis. Her lack of virilization precludes her precise categorization in the current nomenclature of gonadal dysgenesis and she is considered a unique variant of the syndrome of mixed gonadal dysgenesis.
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PMID:Mixed gonadal dysgenesis without virilization. 90

An isodicentric X chromosome (46, X idic (X)(pter leads to qter::qter leads to pter)) with a single functioning centromere was found in all lymphocytes and fibroblasts examined from a female patient 171.5 cm in height presenting with primary amenorrhoea. Replication of the abnormal chromosome was consistently late. In some cells the pattern was asymmetrical but the asymmetry did not appear to relate to the position of the active centromere.
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PMID:Isodicentric X chromosome in a moderately tall patient with gonadal dysgenesis: lack of effect of functional centromere on inactivation pattern. 715 45