Abstract
High resolution chromosome analysis showed the karyotype 46,XX,del(1)(p22.1 p31.2) in a 30 year old woman with psychomotor retardation and various malformations. Determination of the enzyme phosphoglucomutase 1 (PGM1) showed that she was a heterozygote. Three other cases of interstitial deletion 1p have been reported previously, and one of these cases had several features in common with our case, suggesting a distinct syndrome.
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- 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]
- 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]
- Hain D., Leversha M., Campbell N., Daniel A., Barr P. A., Rogers J. G. The ascertainment and implications of an unbalanced translocation in the neonate. Familial 1:15 translocation. Aust Paediatr J. 1980 Sep;16(3):196–200. doi: 10.1111/j.1440-1754.1980.tb01296.x. [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]
- Schönenberg H., Habedank M. Ein neues Fehlbildungs-Retardierungssyndrom (Wiedemann und Tolksdorf) Monatsschr Kinderheilkd. 1974 Dec;122(12):900–906. [PubMed] [Google Scholar]
- Steele M. W., Wenger S. L., Geweke L. O., Golden W. L. The level of 6-phosphogluconate dehydrogenase (6-PGD) activity in a patient with 1p terminal deletion suggests that the gene locus is not distal to sub-band p36.3 on chromosome 1. Clin Genet. 1984 Jan;25(1):59–62. doi: 10.1111/j.1399-0004.1984.tb00463.x. [DOI] [PubMed] [Google Scholar]
- Wiedemann H. R., Tolksdorf M. Fehlbildungs-Retardierungs-Syndrom mit "Schafsgesicht" und autosomaler Strukturanomalie. Klin Padiatr. 1973 Sep;185(5):346–351. [PubMed] [Google Scholar]
- Yunis E., Quintero L., Leibovici M. Monosomy 1pter. Hum Genet. 1981;56(3):279–282. doi: 10.1007/BF00274679. [DOI] [PubMed] [Google Scholar]