10p Duplication characterized by fluorescence in situ hybridization
Journal Article
·
· American Journal of Medical Genetics
- Henry Ford Hospital, Detroit, MI (United States)
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. 19 refs., 4 figs.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 54876
- Journal Information:
- American Journal of Medical Genetics, Vol. 52, Issue 3; Other Information: PBD: 1 Sep 1994
- Country of Publication:
- United States
- Language:
- English
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