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13q-/r(13) mosaicism (1981)

Tamura, T. ; Umetsu, M. ; Motoya, H. ; [et al.]

Springer

European journal of pediatrics 136 (1981), S. 101-104

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ISSN: 1432-1076

Keywords: Chromosome anomalies ; Chromosome mosaicism ; Chromosome 13q- ; Ring chromosome 13 ; Diabetes insipidus

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: 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.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF00441721

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