Interstitial deletion of chromosome 7 detected in three unrelated patients
β Scribed by Marina Seabright; George M. Lewis
- Publisher
- Springer
- Year
- 1978
- Tongue
- English
- Weight
- 203 KB
- Volume
- 42
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
β¦ Synopsis
Chromosome studies were carried out on three patients for the following reasons: (1) growth retardation and mental subnormality in a boy; (2) marked developmental delay in a female infant; (3) routine check on a man whose wife had a stillborn with congenital anomalies. An interstitial deletion at 7q11::7q21 was observed in all three cases.
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Previous studies have shown that patients with deletion of distal human chromosome arm 8p may have congenital heart disease and other physical anomalies. The gene encoding GATA-4, a zinc finger transcription factor implicated in cardiac gene expression and development, localizes to chromosome region