Abstract
We describe a female neonate with spondylocostal dysostosis and a translocation resulting in monosomy for the region 6q25→qter and trisomy for the region 15q11.1→pter. The finding of a Mendelian disorder with a chromosomal abnormality may help in the localization of the gene(s) involved in this disease.
Original language | English |
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Pages (from-to) | 347-350 |
Number of pages | 3 |
Journal | Clinical dysmorphology |
Volume | 6 |
Issue number | 4 |
DOIs | |
Publication status | Published - 1997 |
Keywords
- Chromosomal translocation
- Spondylocostal dysostosis