ISSN:
1432-1076
Schlagwort(e):
Chromosome anomalies
;
Chromosome mosaicism
;
Chromosome 13q-
;
Ring chromosome 13
;
Diabetes insipidus
Quelle:
Springer Online Journal Archives 1860-2000
Thema:
Medizin
Notizen:
Abstract 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.
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1007/BF00441721
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