I(1p), I(1q) Syndrome

Living reference work entry

Abstract

In 1999, Chen et al. (1999) first described uniparental (paternal) isodisomy, resulting from 46,XX,i(1p),i(1q) in a woman with short stature, ptosis, micro-/retrognathia, myopathy, deafness, and sterility.

Keywords

Recombination Myopathy 

References

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Copyright information

© Springer Science+Business Media New York 2016

Authors and Affiliations

  1. 1.Perinatal and Clinical Genetics, Department of PediatricsLSU Health Sciences CenterShreveportUSA

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