Deletion of short arms of chromosome 4–5 in a child with defects of midline fusion
✍ Scribed by Kurt Hirschhorn; Herbert L. Cooper; I. Lester Firschein
- Publisher
- Springer
- Year
- 1965
- Tongue
- English
- Weight
- 580 KB
- Volume
- 1
- Category
- Article
- ISSN
- 0340-6717
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We report the prenatal diagnosis at 30 weeks of gestation of a del(8)(p21.3-->pter) in a growth-retarded fetus with an unbalanced atrioventricular septal defect (AVSD) and a hypoplastic right ventricle. This observation further confirms the association of AVSD with terminal deletions of chromosome 8
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