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

Andrea Guala, Claudia Dellavecchia, Savina Mannarino, Felice Rognone, Sabrina Giglio, Antonella Minelli, Cesare Danesino

Research output: Contribution to journalArticlepeer-review

Abstract

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 region from D13S317 to D13S285 and a paternal origin of the anomaly.

Original languageEnglish
Pages (from-to)319-323
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume72
Issue number3
DOIs
Publication statusPublished - Oct 31 1997

Keywords

  • 13q critical region
  • Deletion(13)
  • Ring(13)
  • XK syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

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