Terminal deletion 6P23: A case report
✍ Scribed by Kormann-Bortolotto, M. H. ;Farah, L. M. S. ;Soares, D. ;Corbani, M. ;Müller, R. ;Adell, A. C. A.
- Publisher
- John Wiley and Sons
- Year
- 1990
- Tongue
- English
- Weight
- 278 KB
- Volume
- 37
- Category
- Article
- ISSN
- 0148-7299
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A subtle terminal deletion of the short arm of chromosome 8 with a breakpoint in p23.1 was detected in amniocytes. Parental chromosome studies revealed a similar deletion in the father. The fetus did not have any abnormalities in a level II ultrasound. The pregnancy was continued and resulted in the
## Abstract We report on a 9‐year‐old female patient with facial anomalies and developmental delay, heterozygous for three de novo rearrangements: a paracentric inversion of chromosome 7, an apparently balanced translocation between chromosome 1 and 7, involving the same inverted chromosome 7, dete