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Article

Ring chromosome 13 with loss of the region D13S317-D13S285: phenotypic overlap with XK syndrome.

American journal of medical genetics - 31 Oct 1997

Guala A, Dellavecchia C, Mannarino S, Rognone F, Giglio S, Minelli A, Danesino C

Abstract excerpt

We report on a patient with a multiple congenital abnormalities/mental retardation (MCA/MR) syndrome including facial abnormalities, agenesis of the corpus callosum, heart defect, 1st ray anomalies of the upper limb, and ambiguous genitalia, whose phenotype overlaps a previous description of XK syndrome. The patient has a ring chromosome (13) with deletion 13q32-qter. Molecular analysis demonstrated loss of the...

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PMID: 9332662

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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Ring chromosome 13 with loss of the region D13S317-D13S285: phenotypic overlap with XK syndrome.PMID 9332662Read ↗

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