Uniparental isodisomy resulting from 46,XX,i(1p),i(1q) in a woman with short stature, ptosis, micro/retrognathia, myopathy, deafness, and sterility
- 29 January 1999
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 82 (3) , 215-218
- https://doi.org/10.1002/(sici)1096-8628(19990129)82:3<215::aid-ajmg4>3.0.co;2-z
Abstract
No abstract availableKeywords
This publication has 3 references indexed in Scilit:
- Paternal Uniparental Disomy for Chromosome 1 Revealed by Molecular Analysis of a Patient with PycnodysostosisAmerican Journal of Human Genetics, 1998
- Maternal Uniparental Disomy of Chromosome 1 with Reduction to Homozygosity of the LAMB3 Locus in a Patient with Herlitz Junctional Epidermolysis BullosaAmerican Journal of Human Genetics, 1997
- Is There an Abnormal Phenotype Associated with Maternal Isodisomy for Chromosome 2 in the Presence of Two Isochromosomes?American Journal of Human Genetics, 1997