Deletion of short arm of chromosome 1 is a rare clinical entity and there are no clearly defined phenotype. We report a case of deletion of the short arm of chromosome 1, which is believed to be the first case among the Chinese population. This baby was also found to have some Robinow Syndrome-like features as well as absent corpus callosum which have never been reported in deletion of chromosome lP.
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Declaration
The author(s) declare there are no affiliations with or involvement in any organisation or entity with any financial interest in the subject matter or materials discussed in this manuscript.
