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Am J Med Genet. 1990 May;36(1):29-32.

Double chromosome anomaly: interstitial deletion 5q and reciprocal translocation (1;11)(p22;q21).

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1
Department of Morphologic Sciences, Universidad Peruana Cayetano Heredia, Lima.

Abstract

We describe a girl with multiple congenital abnormalities and developmental delay; her karyotype showed an apparently balanced translocation between the short arm of chromosome 1 and the long arm of chromosome 11, and an interstitial deletion of the long arm of chromosome 5 (q15q31). The clinical findings are compared with those described in other cases of 5q deletion, and the origin of the chromosome rearrangements is briefly discussed.

PMID:
2185634
DOI:
10.1002/ajmg.1320360107
[Indexed for MEDLINE]
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