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
This publication has 11 references indexed in Scilit:
- INTERSTITIAL DELETION 1P AS A RESULT OF A DENOVO RECIPROCAL 1P-2P TRANSLOCATION1985
- De novo deletion 1p(34?pter)Human Genetics, 1985
- The level of 6‐phosphogluconate dehydrogenase (6‐PGD) activity in a patient with a 1p terminal deletion suggests that the gene locus is not distal to sub‐band p36.3 on chromosome 1Clinical Genetics, 1984
- Chromosomal sublocalization of human c-myb and c-fes cellular onc genesNature, 1983
- Report of the committee on the genetic constitution of chromosome 1Cytogenetic and Genome Research, 1982
- Monosomy 1pterHuman Genetics, 1981
- The ascertainment and implications of an unbalanced translocation in the neonate. Familial 1:15 translocationJournal of Paediatrics and Child Health, 1980
- De novo interstitial deletion del(1)(p21p32).Journal of Medical Genetics, 1979
- [An uncommon malformation-retardation syndrome with "sheep-like face" and associated with autosomal structural aberration (author's transl)].1973
- A large deletion of chromosome no. 1 (46,XY,1?--).Journal of Medical Genetics, 1968