Postmortem Diagnosis of Heart-hand Syndrome Associated With a 7p22.1p22.3 Deletion in a 16-week-old Fetus

Pediatr Dev Pathol. 2019 Mar-Apr;22(2):146-151. doi: 10.1177/1093526618799293. Epub 2018 Sep 7.

Abstract

We report a male fetus with a 6.8 Mb deletion on chromosome 7p22.1p22.3 at 16 weeks of gestation. The fetus presented a heart-hand syndrome with great artery malposition, bilateral radial ray deficiency, a single pelvic kidney, and growth retardation. This deletion involves a minimal deleted region for cardiac malformation and the RAC1 gene, previously described in limb anomalies in mice. This fetus is the third human case with limb defects and RAC1 deletion.

Keywords: 7p22.1p22.3 deletion; great arteries malposition; radial ray deficiency.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics
  • Chromosomes, Human, Pair 7
  • Fetal Death
  • Gene Deletion*
  • Genetic Markers
  • Heart Defects, Congenital / diagnosis*
  • Heart Defects, Congenital / genetics
  • Heart Septal Defects, Atrial / diagnosis*
  • Heart Septal Defects, Atrial / genetics
  • Humans
  • Lower Extremity Deformities, Congenital / diagnosis*
  • Lower Extremity Deformities, Congenital / genetics
  • Male
  • Upper Extremity Deformities, Congenital / diagnosis*
  • Upper Extremity Deformities, Congenital / genetics
  • rac1 GTP-Binding Protein / genetics*

Substances

  • Genetic Markers
  • RAC1 protein, human
  • rac1 GTP-Binding Protein

Supplementary concepts

  • Holt-Oram syndrome