Two cases of interstitial deletion 1p.
Open Access
- 1 February 1991
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 28 (2) , 128-130
- https://doi.org/10.1136/jmg.28.2.128
Abstract
We report two cases of interstitial deletion of the short arm of chromosome 1. The first was a 10 year old boy whose karyotype was 46,XY,del(1) (p22.1p31.2); the second was a 6 month old boy with a chromosome complement of 46,XY,del(1) (p22.3p31.3). A number of the malformations observed were common to both cases. There has been one previously reported case with the same breakpoints as our case 1 and a phenotype that was strikingly similar.Keywords
This publication has 5 references indexed in Scilit:
- Deletion of chromosome 1p: a short reviewClinical Genetics, 1990
- Interstitial deletion 1p in a 30 year old woman.Journal of Medical Genetics, 1987
- INTERSTITIAL DELETION 1P AS A RESULT OF A DENOVO RECIPROCAL 1P-2P TRANSLOCATION1985
- Report of the committee on the genetic constitution of chromosome 1Cytogenetic and Genome Research, 1982
- De novo interstitial deletion del(1)(p21p32).Journal of Medical Genetics, 1979