Unilateral pulmonary artery agenesis in an infant with 22q11.2 deletion syndrome

Monosomy 18p and trisomy 17q in a boy with unilateral absence of the right pulmonary artery

“…Subsequently, the follow-up of the patient was lost (personal communication with Dr. Velagaleti). There is very little information about UAPA in infancy [3] and, as far as we know, had only previously been associated with the 22q11 deletion syndrome [3,5].…”

“…It may be isolated, but it is more often associated with other congenital cardiac defects [2]. Two types of clinical presentations have been reported: it can be either a random finding during imaging or it can present with hemoptysis or progressive dyspnea on exertion [3]. The embryologic cause of UAPA is still a matter of debate [4] and mostly does not have a syndromic association, only being related to the 22q11 chromosome deletion syndrome [3,5].…”

“…Two types of clinical presentations have been reported: it can be either a random finding during imaging or it can present with hemoptysis or progressive dyspnea on exertion [3]. The embryologic cause of UAPA is still a matter of debate [4] and mostly does not have a syndromic association, only being related to the 22q11 chromosome deletion syndrome [3,5]. We present the case of a male baby with UAPA and peculiar facies, in whom it was possible to characterize an unbalanced structural rearrangement leading to trisomy 17q25.1-qter and monosomy of 18p11.21-pter.…”