A malformed girl with duplication of chromosome 9q.
Open Access
- 1 October 1984
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 21 (5) , 387-388
- https://doi.org/10.1136/jmg.21.5.387
Abstract
A case of a 1 year old girl with a duplication of the long arm of chromosome 9 is described: 46,XX,dir dup(9)(q12----q32). The clinical features of the child are strikingly similar to those of the two cases reported by Turleau et al and Faed et al. The similarity of the abnormalities may help in recognising this syndrome by its characteristic dysmorphic features.Keywords
This publication has 4 references indexed in Scilit:
- High-resolution banding by treating cells with acridine orange before fixationCytogenetic and Genome Research, 1983
- Modification of DAPI banding on human chromosomes by prestaining with a DNA-binding oligopeptide antibiotic, distamycin AExperimental Cell Research, 1978
- Pure partial trisomy for long arm of chromosome 9.Journal of Medical Genetics, 1976
- Partial trisomy 9q: A new syndromeHuman Genetics, 1975