Case Reports
doi: 10.1136/jmg.17.6.480.
Craniosynostosis and syndactyly: expanding the 11q-- chromosomal deletion phenotype
- PMID: 7205433
- PMCID: PMC1885929
- DOI: 10.1136/jmg.17.6.480
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Case Reports
Craniosynostosis and syndactyly: expanding the 11q-- chromosomal deletion phenotype
J Med Genet.
1980 Dec.
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.
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