Abstract
We report a case of a 9 month old girl with a de novo interstitial deletion of 1p, karyotype 46,XX, del(1)(pter----p34.1::p32.3----qter). She had dysmorphic features including upward slanting palpebral fissures, a bulbous nose, a long philtrum, low set and malformed ears, a short neck, hypoplastic nails on both index fingers, widened interdigital spaces between the toes, dilated lateral ventricles, right hydronephrosis, a dilated right ureter, mental and motor developmental delay, and generalised hypotonia.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Aarskog D. A large deletion of chromosome no. 1 (46,XY,1?--). J Med Genet. 1968 Dec;5(4):322–325. doi: 10.1136/jmg.5.4.322. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Babu A., Agarwal A. K., Verma R. S. A new approach in recognition of heterochromatic regions of human chromosomes by means of restriction endonucleases. Am J Hum Genet. 1988 Jan;42(1):60–65. [PMC free article] [PubMed] [Google Scholar]
- 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]
- Gencík A., Gencíkova A. Partial 1p monosomy in a physically and mentally retarded boy. J Genet Hum. 1987 Aug;35(4):309–315. [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]
- Wenger S. L., Steele M. W., Becker D. J. Clinical consequences of deletion 1p35. J Med Genet. 1988 Apr;25(4):263–263. doi: 10.1136/jmg.25.4.263. [DOI] [PMC free article] [PubMed] [Google Scholar]