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

Living reference work entry


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.


Short Stature Normal Chromosome Uniparental Disomy Maternal Uniparental Disomy Uniparental Isodisomy 
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  1. Albrecht, B., Mergenthaler, S., Eggermann, K., et al. (2001). Uniparental isodisomy for paternal 2p and maternal 2q in a phenotypically normal female with two isochromosomes, i(2p) and i(2q). Journal of Medical Genetics, 38, 214–216.CrossRefPubMedPubMedCentralGoogle Scholar
  2. Baumer, A., Bascaran, S., Taralczak, M., et al. (2007). Initial maternal meiotic I error leading to the formation of a maternal i(2q) and a paternal i(2p) in a healthy male. Cytogenetic and Genome Research, 118, 38–41.CrossRefPubMedGoogle Scholar
  3. Bernasconi, F., Karaguzel, A., Celep, F., et al. (1996). Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q). American Journal of Human Genetics, 59, 1114–1118.PubMedPubMedCentralGoogle Scholar
  4. Chen, H., Young, R., Mu, X., et al. (1999). Uniparental isodisomy resulting from 46, XX, i(1p), i(1q) in a woman with short stature, ptosis, micro/retrognathia, myopathy, deafness, and sterility. American Journal of Medical Genetics, 82, 215–218.CrossRefPubMedGoogle Scholar
  5. Eggerding, F. A., Schonberg, S. A., Chehab, F. F., et al. (1994). Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation. American Journal of Human Genetics, 55, 253–265.PubMedPubMedCentralGoogle Scholar
  6. Gelb, B. D., Willner, J. P., Dunn, T. M., et al. (1998). Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis. American Journal of Human Genetics, 62, 848–854.CrossRefPubMedPubMedCentralGoogle Scholar
  7. Lindenbaum, R. H., Woods, C. G., Norbury, C. G., et al. (1991). An individual with maternal disomy of chromosome 4 and iso(4p), iso(4q). American Journal of Human Genetics, 49 (Supp l), A285.Google Scholar
  8. Pulkkinen, L., Bullrich, F., Czarnecki, P., et al. (1997). Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa. American Journal of Human Genetics, 61, 611–619.CrossRefPubMedPubMedCentralGoogle Scholar
  9. Shaffer, L. G., McCaskill, C., Egli, C. A., et al. (1997). Is there an abnormal phenotype associated with maternal isodisomy for chromosome 2 in the presence of two isochromosomes? American Journal of Human Genetics, 61, 461–462.CrossRefPubMedPubMedCentralGoogle Scholar
  10. Spence, J. E., Perciaccante, R. G., Greig, G. M., et al. (1988). Uniparental disomy as a mechanism for human genetic disease. American Journal of Human Genetics, 42, 217–226.PubMedPubMedCentralGoogle Scholar
  11. Takizawa, Y., Pulkkinen, L., Chao, S.-C., et al. (2000). Complete paternal uniparental isodisomy of chromosome 1: A novel mechanism for Herlitz junctional epidermolysis bullosa. Journal of Investigative Dermatology, 115, 307–311.CrossRefPubMedGoogle Scholar
  12. Turner, C. L. S., Bunyan, D. J., Thomas, S., et al. (2007). Zellweger syndrome resulting from maternal isodisomy of chromosome 1. American Journal of Medical Genetics. Part A, 143A, 2172–2177.CrossRefPubMedGoogle Scholar

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© 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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