De novo interstitial deletion of 1p (pter----p34.1::p32.3----qter).
Open Access
- 1 August 1991
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 28 (8) , 539-540
- https://doi.org/10.1136/jmg.28.8.539
Abstract
We report a case of a 9 month old girl with a de novo interstitial deletion of 1p, karyotype 46,XX, del(1)(pter----p34.1::p32.3----qter). She had dysmorphic features including upward slanting palpebral fissures, a bulbous nose, a long philtrum, low set and malformed ears, a short neck, hypoplastic nails on both index fingers, widened interdigital spaces between the toes, dilated lateral ventricles, right hydronephrosis, a dilated right ureter, mental and motor developmental delay, and generalised hypotonia.Keywords
This publication has 8 references indexed in Scilit:
- Deletion of chromosome 1p: a short reviewClinical Genetics, 1990
- Clinical consequences of deletion 1p35.Journal of Medical Genetics, 1988
- A NEW APPROACH IN RECOGNITION OF HETEROCHROMATIC REGIONS OF HUMAN-CHROMOSOMES BY MEANS OF RESTRICTION ENDONUCLEASES1988
- Partial 1p monosomy in a physically and mentally retarded boy.1987
- Interstitial deletion 1p in a 30 year old woman.Journal of Medical Genetics, 1987
- De novo deletion 1p(34?pter)Human Genetics, 1985
- De novo interstitial deletion del(1)(p21p32).Journal of Medical Genetics, 1979
- A large deletion of chromosome no. 1 (46,XY,1?--).Journal of Medical Genetics, 1968