Interstitial deletion 1p in a 30 year old woman.
- 1 April 1987
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 24 (4), 229-231
- https://doi.org/10.1136/jmg.24.4.229
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.Keywords
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