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Incomplete trisomy 22

II. Familial trisomy of the distal segment of chromosome 22q in two brothers from a mother with a translocation, t(6;22)(q27;q13)

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Summary

Two brothers with duplication of the distal segment of 22q inherited from a t(6;22)(q27;13) translocation carrier mother presented with intraurine growth retardation, congenital hydrocephalus, cleft palate, genital hypoplasia with cryptorchidism and hypospadias, and similar facial features including mongoloid position of eyeaxes, hypertelorism, small nose with prominent bridge, prominent upper lip, and small mandible. In addition the second sib revealed renal hypoplasia, arrhinencephaly and pentalogy of Fallot. The patients died at ages eight days and one day, respectively. The two brothers appear to be the first instances of familial trisomy 22q13→qter.

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References

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Authors and Affiliations

  1. Institute of Medical Genetics, University of Zurich, Steinwiesstraße 75, CH-8032, Zurich, Switzerland

    A. Schinzel

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  1. A. Schinzel
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Schinzel, A. Incomplete trisomy 22. Hum Genet 56, 263–268 (1981). https://doi.org/10.1007/BF00274676

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  • DOI: https://doi.org/10.1007/BF00274676

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