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Article

Identification of an X-linked deletion syndrome through comparative genomic hybridization microarray.

Seminars in pediatric neurology - 1 Mar 2010

Rush Eric T, Schaefer G Bradley

Abstract excerpt

We present a single case of a young man with multiple congenital anomalies. For years, a unifying diagnosis could not be made. As his case developed, more clues came to light, but still no recognizable pattern could be identified. Ultimately, the combination of orofacial clefting, neurosensory hearing loss, choroideremia, and cognitive delays were shown to be due to an Xq21 [corrected] micro-deletion as seen on...

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Identifiers

PMID: 20434696
DOI: 10.1016/j.spen.2010.02.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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