Dup(13)(q14.2-q14.3): yet another new differential diagnostic aspect for short stature-like phenotype

J Histochem Cytochem. 2005 Mar;53(3):365-6. doi: 10.1369/jhc.4B6388.2005.

Abstract

We report on the case of a pregnant woman with hyposomia who was previously suspected of having Turner syndrome. Prenatal cytogenetic diagnostics showed a fetal karyotype of 46,XX,dup(13)(q14.2q21.1) ish.13q14(RB1 x 3). Parental and grandparental chromosome analyses were performed and the dup(13) was found to be of maternal origin (de novo). The pregnancy was continued and a healthy female child was born with normal development apart from growth retardation. The reported chromosomal aberration is, together with two other cases reported in the literature, the first hint of a short stature-like phenotype due to dup(13)(q14.2q14.3).

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Body Height / genetics*
  • Chromosome Aberrations*
  • Chromosome Banding
  • Chromosomes, Human, Pair 13 / genetics*
  • Female
  • Fetal Diseases / diagnosis
  • Fetal Diseases / genetics*
  • Growth Disorders / diagnosis
  • Growth Disorders / genetics*
  • Humans
  • Infant, Newborn
  • Phenotype
  • Pregnancy
  • Prenatal Diagnosis