Craniosynostosis and syndactyly: expanding the 11q-- chromosomal deletion phenotype.
- 1 December 1980
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 17 (6) , 480-483
- https://doi.org/10.1136/jmg.17.6.480
Abstract
A patient with a partial deletion (q23 leads to qter) of the long arm of chromosome 11 presented with craniosynostosis and syndactyly. These characteristics, which have not been previously reported with 11q--, expand the phenotype of this syndrome and emphasise the need for chromosome analysis with banding techniques in multiple congenital anomaly syndromes, even if the patient could be classified as having a non-chromosomal syndrome.Keywords
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