Abstract
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 language | English |
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Pages (from-to) | 283-287 |
Number of pages | 5 |
Journal | American Journal of Medical Genetics |
Volume | 29 |
Issue number | 2 |
Publication status | Published - 1988 |
Externally published | Yes |