We report the clinical findings in 5 patients with a terminal deletion of the short arm of chromosome 8. Mild developmental delay was constantly present, in association with microcephaly in 4 of 5 patients. Facial anomalies were mild or absent. A congenital heart defect was present in 3 patients: an
Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4
β Scribed by Cotter, Philip D. ;Kaffe, Sara ;Li, Lei ;Gershin, Irina F. ;Hirschhorn, Kurt
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 125 KB
- Volume
- 102
- Category
- Article
- ISSN
- 0148-7299
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