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A new case of partial trisomy 19q (q13.2-->qter) owing to an unusual maternal translocation.
  1. D Valerio,
  2. F Lavorgna,
  3. M Scalona,
  4. A Conte
  1. Laboratorio di Citogenetica e Diagnosi Prenatale, Centro Ricerche Ormonali, Napoli, Italy.

    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.

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