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.
| Original language | English |
|---|---|
| Pages (from-to) | 214-216 |
| Number of pages | 3 |
| Journal | Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui |
| Volume | 36 |
| Issue number | 3 |
| Publication status | Published - 1995 |
All Science Journal Classification (ASJC) codes
- Pediatrics, Perinatology, and Child Health