De novo 46,XX,t(6;7)(q27;q11;23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome

Am J Med Genet. 2000 Feb 14;90(4):270-5. doi: 10.1002/(sici)1096-8628(20000214)90:4<270::aid-ajmg2>;2-r.


Supravalvular aortic stenosis may present as an isolated finding or as part of Williams syndrome. Williams syndrome is a contiguous gene syndrome associated with neurodevelopmental and multisystemic manifestations caused by hemizygous deletion at 7q11.23. We report on the prenatal and histopathological findings in a patient with a chromosome translocation involving the Williams syndrome critical region. The initial abnormality on fetal ultrasound was hydrops fetalis detected at 30 weeks and echocardiography showed narrowing of the aorta and the pulmonary arteries. The baby died shortly after delivery and an autopsy revealed diffuse tubular thickening with luminal narrowing of the aorta, aortic branches, and the pulmonary arteries. Histopathology showed dysplasia of the media with reduced elastic content and "cartwheel" arrangement of collagen, elastic, and muscle fascicles. The karyotype was 46,XX,t(6;7)(q27;q11.23). Three signals were detected using the Oncor fluorescent in situ hybridization probe for elastin-Williams syndrome (WSCR) suggesting that the break in chromosome 7 is within the elastin-Williams gene. This patient is of special interest because of the prenatal presentation and the chromosomal translocation involving the elastin-Williams syndrome locus.

Publication types

  • Case Reports

MeSH terms

  • Aortic Valve Stenosis / genetics*
  • Chromosomes, Human, Pair 6*
  • Chromosomes, Human, Pair 7*
  • Female
  • Heart Defects, Congenital / genetics*
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Magnetic Resonance Imaging
  • Translocation, Genetic*
  • Ultrasonography, Prenatal
  • Williams Syndrome / genetics*