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Eur J Pediatr. 1981 Mar;136(1):101-4.

13q-/r(13) mosaicism.

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.

PMID:
7215384
[PubMed - indexed for MEDLINE]

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