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

✍ Scribed by Guala, Andrea; Dellavecchia, Claudia; Mannarino, Savina; Rognone, Felice; Giglio, Sabrina; Minelli, Antonella; Danesino, Cesare

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 44 KB
Volume: 72
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19971031)72:3<319::aid-ajmg13>3.0.co;2-w

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✦ Synopsis

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.

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