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.
KeywordsShort Stature Normal Chromosome Uniparental Disomy Maternal Uniparental Disomy Uniparental Isodisomy
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- 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
- 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
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