Abstract
A patient with mosaic trisomy 7 and features of Potter syndrome is described. The patient was the product of a 35‐week gestation and survived fourteen hours, demise being attributed to respiratory insufficiency. Autopsy confirmed pulmonary hypoplasia and renal agenesis. Additional findings included malformed, low‐set ears, a flattened nasal bridge, redundant nuchal skin, positional deformation of the extremities, rocker‐bottom feet, and clitorimegaly. Cytogenetic study of peripheral blood and skin fibroblast culture revealed mosaicism for full trisomy 7, the skin showing 12% of the cells to have an extra 7. Comparison with one previously confirmed case of trisomy 7 and two cases of trisomy C suggests a correlation between trisomy 7 and Potter syndrome.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 543-548 |
| Number of pages | 6 |
| Journal | Clinical Genetics |
| Volume | 25 |
| Issue number | 6 |
| DOIs | |
| State | Published - Jun 1984 |
Keywords
- Chromosome 7
- Potter syndrome
- congenital malformations
- renal agenesis
- trisomy
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)