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BIBTEX RIS

Duplication of 16q22-->qter confirmed by fluorescence in situ hybridisation and molecular analysis.

1994; BMJ; Volume: 31; Issue: 11 Linguagem: Inglês

10.1136/jmg.31.11.884

ISSN

1468-6244

Autores

Richard S. Houlston, Richard M. Renshaw, R S James, R Ironton, I. Karen Temple,

Tópico(s)

Congenital Ear and Nasal Anomalies

Resumo

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.

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