Congenital heart defect in a patient with deletion of chromosome 7q

G. E. Tiller, M. S. Watson, L. M. Duncan, S. B. Dowton

Research output: Contribution to journalArticlepeer-review

16 Citations (Scopus)


We describe a premature male infant with a terminal deletion of 7q [del(7) (pter→q34:)]. Manifestations include low birth weight, hypertelorism, bilateral cleft lip and palate, cryptorchidism, and a complex congenital heart defect. The latter consisted of hypoplasia of the main pulmonary artery, absent pulmonary valve, ventricular septal defect, and anomalous right pulmonary artery. We briefly review the spectrum of heart defects seen with chromosome 7 deletions, and comment on the incidence of this unusual heart lesion.

Original languageEnglish
Pages (from-to)283-287
Number of pages5
JournalAmerican Journal of Medical Genetics
Issue number2
Publication statusPublished - 1988
Externally publishedYes


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