Duplication of 16q22-->qter confirmed by fluorescence in situ hybridisation and molecular analysis.
Open Access
- 1 November 1994
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 31 (11), 884-887
- https://doi.org/10.1136/jmg.31.11.884
Abstract
We report a female infant with congenital dislocation of the knee and dysmorphic features including a prominent forehead, midface hypoplasia, and micrognathia. Fluorescence in situ hybridisation and PCR amplification of microsatellite repeats were used to show that she had a de novo unbalanced translocation resulting in partial trisomy for 16q and partial monosomy for 15q (46,XX, -15, tder(15)t(15;16)(q26.1;q22). The consequences of partial aneuploidy of 16q are discussed.Keywords
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