Congenital isolated absence of pulmonary valve in a neonate with partial trisomy 13q.
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.
Yu
J
J
Department of Pediatrics, National Cheng Kung University Hospital, Tainan, Taiwan, R.O.C.
Wu
J M
JM
Lin
S J
SJ
Tzeng
C C
CC
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