13q-/r(13) mosaicism.
A 2-month-old female infant with typical features of the 13q- syndrome was found to be a hitherto unreported mosaic consisting of 46,XX,del (13)(q22)/46,XX,r(13)(p13q22). She has not been able to maintain normal values of serum Na and Cl since the second day of life: this may be induced by cerebral dysgenesis.
D001921:Brain / Q000002:abnormalities; D002712:Chlorides / Q000097:blood; D002901:Chromosomes, Human, 13-15; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D009030:Mosaicism; D012964:Sodium / Q000097:blood; D014057:Tomography, X-Ray Computed
D002712:Chlorides; D012964:Sodium