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

J Med Genet. 1993 Aug;30(8):697-9. doi: 10.1136/jmg.30.8.697.

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.

Publication types

  • Case Reports

MeSH terms

  • Chromosomes, Human, Pair 19*
  • Female
  • Humans
  • Karyotyping
  • Male
  • Translocation, Genetic / genetics*
  • Trisomy / genetics*