An interstitial deletion of chromosome 9 in a girl with multiple congenital anomalies.
Open Access
- 1 December 1977
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 14 (6) , 455-459
- https://doi.org/10.1136/jmg.14.6.455
Abstract
An infant with peculiar facies, coloboma of both eyes, and developmental retardation was found to have d de novo interstitial deletion of the secondary constriction and some adjacent euchromatin on one of her No. 9 chromosomes, del(9)(q11q21). Since studies on duplications, variants, and the molecular composition of the secondary constriction suggest that it contributes little if any information necessary to normal development, deletion of the euchromatin alone is most probably responsible for the clinical findings.This publication has 7 references indexed in Scilit:
- 9P- SYNDROME1976
- Partial and complete trisomy 9: Delineation of a trisomy 9 syndromeHuman Genetics, 1976
- A ring 9 chromosomeCytogenetic and Genome Research, 1975
- A ring chromosome, diagnosed by quinacrine fluorescence as No. 9, in a mentally retarded girlClinical Genetics, 1973
- A Chromosomal Break and Partial Delection of a Number 9 ChromosomeHuman Heredity, 1973
- Chromosome survey of a hospital for the mentally subnormal Part 2: Autosome abnormalitiesClinical Genetics, 1972
- Human Chromosome MethodologyThe Lancet Healthy Longevity, 1965