Monosomy 8p: an easily overlooked syndrome.
- 1 April 1986
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 23 (2) , 153-154
- https://doi.org/10.1136/jmg.23.2.153
Abstract
Two patients with partial monosomy of the short arm of chromosome 8 are described. Their clinical features were very similar. Comparison with previously reported patients confirms the existence of an 8p-syndrome. The importance of cytogenetic investigations in all infants with major congenital heart defect and facial dysmorphism or microcephaly or both is stressed.This publication has 8 references indexed in Scilit:
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- Small structural changes of chromosome 8Human Genetics, 1977
- New chromosomal malformation syndromesEuropean Journal of Nuclear Medicine and Molecular Imaging, 1977
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- rDNA and acrocentric chromosomes in manHuman Genetics, 1976
- [Partial deletion of the short arm of chromosome 8].1975