S. Yamanaka et al., Chromosome 22q11 deletion complicated by dissecting pulmonary arterial aneurysm and jejunal atresia in an infant, ARCH PATH L, 124(6), 2000, pp. 880-882
Citations number
13
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Medical Research Diagnosis & Treatment
We present an autopsy case of a 46-day-old male infant with chromosome 22q1
1 deletion, which is considered the primary cause of several diseases, incl
uding DiGeorge syndrome and velocardiofacial syndrome. The patient had 2 no
table congenital abnormalities: multiple dissecting pulmonary arterial aneu
rysms distributed in both lungs and multiple jejunal atresia with apple-pee
l deformity. The former, a very rare pathologic condition especially in inf
ancy, was found incidentally at autopsy and was the primary cause of death.
To our knowledge, neither of these lesions has been reported previously in
a patient with chromosome 22q11 deletion.