Deletion of terminal portion of 6q: Report of a case with unusual malformations
- 1 January 1989
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 32 (1) , 81-86
- https://doi.org/10.1002/ajmg.1320320117
Abstract
We present the necropsy findings of a 21‐weekgestation male fetus with deletion of the terminal portion of long arm of chromosome 6 [46,XY,del(6)(q23→qter)]. Major anomalies include intrauterine growth retardation, facial anomalies, nuchal cyst, scoliosis, bilateral diaphragmatic hernias, persistent common atrioventricular canal, absent olfactory bulbs and agenesis of corpus callosum. In aberrations of chromosome 6q, patients usually have psychomotor retardation, somatic growth failure, and facial anomalies; nuchal cyst and bilateral diaphragmatic hernias have not yet been described.Keywords
This publication has 19 references indexed in Scilit:
- The molecular genetics of human chromosome 6.Journal of Medical Genetics, 1987
- Ring chromosome 6: Report of a patient and literature reviewAmerican Journal of Medical Genetics, 1987
- Deletion of proximal 6q: A clinical report and review of the literatureAmerican Journal of Medical Genetics, 1986
- Ring chromosome 6: Variability in phenotypic expressionAmerican Journal of Medical Genetics, 1983
- Ring chromosome 6: Case report and reviewAmerican Journal of Medical Genetics, 1982
- Ring chromosome 6 in a child with minimal abnormalitiesAmerican Journal of Medical Genetics, 1979
- Congenital anomalies including the VATER association in a patient with a del(6)q deletionThe Journal of Pediatrics, 1977
- Replication pattern of the X chromosomes in three X/autosomal translocationsCytogenetic and Genome Research, 1977
- Exclusion of the HLA Locus from a Large Portion of the Long Arm of Chromosome 6Human Heredity, 1977
- Ring chromosome 6 in a malformed boyClinical Genetics, 1975