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Am J Med Genet. 1994 Sep 1;52(3):315-8.

10p duplication characterized by fluorescence in situ hybridization.

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1
Medical Genetics and Birth Defects Center, Henry Ford Hospital, Detroit, Michigan 48202.

Abstract

We describe a patient with severe failure to thrive, mild-moderate developmental delay, cleft lip and palate, and other anomalies. Routine cytogenetic analysis documented a de novo chromosome rearrangement involving chromosome 4, but the origin of the derived material was unknown. Using chromosome specific painting probes, the karyotype was defined as 46,XY,der(4) t(4;10)(q35;p11.23). Characterization of the dup(10p) by fluorescence in situ hybridization (FISH) analysis provides another example of the usefulness of this technology in identifying small deletions, duplications, or supernumerary marker chromosomes.

PMID:
7528972
DOI:
10.1002/ajmg.1320520312
[Indexed for MEDLINE]
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