A new case of partial trisomy 19q (q13.2-->qter) owing to an unusual maternal translocation. Issue 8 (August 1993)

• Record Type: Journal Article
• Authors: Valerio, D; Lavorgna, F; Scalona, M; Conte, A
• Is Part Of: Journal of medical genetics. Volume 30:Issue 8(1993)
• Page Start: 697
• Page End: 699
• Publication Date: 1993-08
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.30.8.697
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : A new case of trisomy 19q13.2-->qter is described in a male child which was caused by a maternal balanced translocation (13;19)(p13;q13.2). The major clinical features detected in the patient included the following: facial dysmorphism, bilateral coloboma, narrow and hypoplastic nails, cardiac malformations (Fallot's tetralogy), genitourinary and gastrointestinal anomalies, and agenesis of the corpus callosum. A comparison with other reported cases of partial trisomy 19q is presented. A hypothesis is proposed to account for the involvement of p13 regions of different acrocentrics in some cases of familial translocations involving a chromosome 19.