Trisomy 18 in a 13 year old girl.
- 1 June 1986
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 23 (3) , 256-257
- https://doi.org/10.1136/jmg.23.3.256
Abstract
A 13 year old girl with trisomy 18 is described. She showed profound mental and growth retardation, severe kyphoscoliosis, and unusual ocular features including discontinuous eyebrows, distichiasis, and blue sclerae.Keywords
This publication has 7 references indexed in Scilit:
- TRISOMY 18 IN AN 11 YEAR OLD GIRLJournal of Intellectual Disability Research, 2008
- Survival in trisomy 18: Life tables for use in genetic counselling and clinical paediatricsClinical Genetics, 1985
- Intraocular pathology of trisomy 18 (Edwards's syndrome): report of a case and review of the literature.British Journal of Ophthalmology, 1983
- Trisomy 18 mosaicism: Clues to the diagnosisClinical Genetics, 1982
- Who will survive with trisomy 13 or 18? A call for cases 10 years old or aboveAmerican Journal of Medical Genetics, 1981
- [Do all cases of trisomy 18 with long survival (beyond 10 years) show mosaicism in fibroblasts? (author's transl)].1978
- EXCLUSION OF CHROMOSOMAL MOSAICISM - TABLES OF 90PERCENT, 95PERCENT, AND 99PERCENT CONFIDENCE-LIMITS AND COMMENTS ON USE1977