Answers are grounded in this paper and cite their sources.
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.
No takes yet. Share an insight, caveat, or question.
Petersen et al. (1987) studied this question.
Synapse has enriched 10 related papers. Consider them for comparative context: