Abstract
We report a case of partial trisomy 10q resulting from a de novo unbalanced translocation detected in amniotic fluid cell culture. The segments involved were confirmed using fluorescence in situ hybridization. At birth, the infant presented with many of the features associated with this syndrome.
Original language | English |
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Pages (from-to) | 75-80 |
Number of pages | 6 |
Journal | Children's Hospital Quarterly |
Volume | 6 |
Issue number | 2 |
State | Published - 1994 |
Externally published | Yes |
Keywords
- fluorescence in situ hybridization (FISH)
- partial trisomy 10q