Isochromosome 18p in a mother and her child
- 1 June 1993
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 46 (4) , 392-393
- https://doi.org/10.1002/ajmg.1320460409
Abstract
We present a familial case of isochromosome 18p [i(18p)] as a supernumerary chromosome. The mother, who is a mosaic for i(18p) with partial tetrasomy 18p syndrome, transmitted the isochromosome to her only child. The child has the full syndrome of tetrasomy 18p. This is the first case of mosaicism i(18p) in an adult patient with clinical manifestations.Keywords
This publication has 6 references indexed in Scilit:
- Sibs with tetrasomy 18p born to a mother with trisomy 18p.Journal of Medical Genetics, 1989
- Mosaicism of isochromosome 18p.Prenatal Diagnosis, 1986
- DNA probe localization at 18p113 band by in situ hybridization and identification of a small supernumerary chromosomeHuman Genetics, 1985
- High Resolution of Human ChromosomesScience, 1976
- Origin of a small metacentric chromosome: Familial and cytogenetic evidenceClinical Genetics, 1975
- Rapid processing of primary embryonic tissues for chromosome banding pattern analysisCytogenetic and Genome Research, 1972