Abstract
We report two cases of interstitial deletion of the short arm of chromosome 1. The first was a 10 year old boy whose karyotype was 46,XY,del(1) (p22.1p31.2); the second was a 6 month old boy with a chromosome complement of 46,XY,del(1) (p22.3p31.3). A number of the malformations observed were common to both cases. There has been one previously reported case with the same breakpoints as our case 1 and a phenotype that was strikingly similar.
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- Bene M., Duca-Marinescu A., Ioan D., Maximilian C. De novo interstitial deletion del(1)(p21p32). J Med Genet. 1979 Aug;16(4):323–327. doi: 10.1136/jmg.16.4.323. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Cook P. J., Hamerton J. L. Report of the committee on the genetic constitution of chromosome 1. Oslo Conference (1981): Sixth International Workshop on Human Gene Mapping. Cytogenet Cell Genet. 1982;32(1-4):111–120. doi: 10.1159/000131691. [DOI] [PubMed] [Google Scholar]
- Hertz J. M., Jensen P. H. Interstitial deletion 1p as a result of a de novo reciprocal 1p;2p translocation. Ann Genet. 1985;28(4):228–230. [PubMed] [Google Scholar]
- Howard P. J., Porteus M. Deletion of chromosome 1p: a short review. Clin Genet. 1990 Feb;37(2):127–131. doi: 10.1111/j.1399-0004.1990.tb03489.x. [DOI] [PubMed] [Google Scholar]
- Petersen M. B., Warburg M. Interstitial deletion 1p in a 30 year old woman. J Med Genet. 1987 Apr;24(4):229–231. doi: 10.1136/jmg.24.4.229. [DOI] [PMC free article] [PubMed] [Google Scholar]