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J Med Genet. 1986 Oct;23(5):477-8.

A de novo X;13 translocation with abnormal phenotype.

Abstract

We describe a female infant who presented with hypotonia and developmental delay. Her karyotype showed a de novo balanced translocation between the X chromosome and chromosome 13, with breakpoints at Xq13 and 13p11. The normal X was late replicating in all cells examined. The cause of this patient's abnormal phenotype is discussed.

PMID:
3783628
PMCID:
PMC1049790
[Indexed for MEDLINE]
Free PMC Article
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