SV at age 7 years presented with multiple congenital anomalies including an absent left kidney, anal stenosis, vertebral abnormalities, partial sacral agenesis, microcephaly, dysmorphic facial features, growth deficiency, and developmental delay. She was found to have a complex chromosomal rearrangement derived from balanced translocations in each parent.
|Original language||English (US)|
|Number of pages||5|
|State||Published - May 1 1998|
- Abnormalities, multiple
- Chromosome abnormalities
- Translocation (genetic)
ASJC Scopus subject areas