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.
|Number of pages||3|
|Journal||Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui|
|Publication status||Published - 1995 Jan 1|
All Science Journal Classification (ASJC) codes
- Pediatrics, Perinatology, and Child Health