title: Congenital isolated absence of pulmonary valve in a neonate with partial trisomy 13q.
abstract: A term female newborn with partial trisomy 13q [46,XX, -18, +der(18) t(13;18) (13qter-->13q22:: 18q23--> 18pter) pat], is described with unbalanced translocation and isolated absence of the pulmonary valve. The clinical manifestations included hypertelorism, corneal opacification, high arch palate, rocker-bottom feet, polydactyly (both hands and feet), respiratory distress and intractable congestive heart failure. Echocardiogram showed isolated absent pulmonary valve. This consents report such a combination in partial chromosome 13 trisomy.
authors.affiliation: Department of Pediatrics, National Cheng Kung University Hospital, Tainan, Taiwan, R.O.C.
authors.forename: J
authors.initials: J
authors.lastname: Yu
authors.forename: J M
authors.initials: JM
authors.lastname: Wu
authors.forename: S J
authors.initials: SJ
authors.lastname: Lin
authors.forename: C C
authors.initials: CC
authors.lastname: Tzeng
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002882:Chromosomes, Human, Pair 13; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D018633:Pulmonary Atresia / Q000235:genetics*; D014314:Trisomy