Publication

Inverted duplication/deletion of the short arm of chromosome 8 in two patients with tetralogy of Fallot

Abstract

The relationship between congenital heart defects (CHD) and chromosomal aberration has been well discussed. Payne et al. suggested that CHD may often be frequently due to a singlegene defect.1 It is known that 22q11.2 deletion syndrome is often associated with tetralogy of Fallot (TOF) and aortic arch anomlies.2,3 The relationship between CHD and chromosome 8 aberration has also been reported. Deletions in the distal region of chromosome 8p (del8p) are associated with CHD, typically in the form of atrioventricular septal defect.4,5 San Luis Valley recombinant chromosome 8 syndrome (SLV Rec8), which is characterized by both deletion of the short arm of chromosome 8 (8p23.1–8pter) and duplication of the long arm of chromosome 8 (8q22.1–8qter), is strongly associated with TOF.6–8 Forty-two out of 45 patients with SLV Rec8 exhibited CHD, 17 of them having TOF.8 We now report two Japanese patients with TOF who showed a chromosomal abnormality: inverted duplication of the short arm of chromosome 8 (inv dup 8) within deletion of 8p23.1–8pter.

Citation

The Project 8p Foundation (Project 8p) was created in 2018 to:

  • Accelerate future treatments, not only for 8p, but potentially for other chromosome-wide diseases as well.
  • Lead with knowledge from patients. Currently, there is no cure for 8p disorders, nor is there a standard course of treatment.

The Project 8p Foundation (Project 8p) was created in 2018 to:

  • Raise transformative funding for pioneering scientific research into treatments for a complex, rare disease involving 250+ affected genes on the short arm of the 8 th chromosome (8p). Rearrangements of these genes causes significant abnormalities to the entire neurological system, thus all organs and functions of the body– with variance in cognitive functions, gross motor skills, social development and other challenges during infancy, and throughout life;
  • Empower a unified community of 8p patients and their families so they can have meaningful lives today; and
  • Accelerate future treatments, not only for 8p, but potentially for other chromosome-wide diseases as well.