Tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries in a patient with interstitial deletion of 16q21-q22.1

Toshiyuki Yamamoto, Yuri Dowa, Hideaki Ueda, Motoyoshi Kawataki, Toshihide Asou, Yuki Sasaki, Naoki Harada, Naomichi Matsumoto, Rumiko Matsuoka, Kenji Kurosawa

Research output: Contribution to journalArticlepeer-review

12 Citations (Scopus)

Abstract

A newborn male had an interstitial deletion of 16q21-q22.1 accompanying tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries (MAPCA), dysmorphic craniofacial features, failure to thrive, and severe psychomotor developmental delay. When the deletion in this patient and other reported patients are compared, the 16q22 region appears to be the smallest region for 16q deletion syndrome. Since over 50% of patients with the deletion of 16q22 region have congenital heart disease, there may be a responsible gene in this region.

Original languageEnglish
Pages (from-to)1575-1580
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume146
Issue number12
DOIs
Publication statusPublished - 2008 Jun 15

Keywords

  • Chromosome 16
  • Congenital heart disease
  • Conotruncal heart defect
  • Contiguous gene syndrome
  • Malformation
  • Microdeletion

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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