Chromosome 7 short arm deletion and craniosynostosis a 7p-syndrome
β Scribed by Elspeth McPherson; Judith G. Hall; Robert Hickman; Bradley T. Gong; Thomas H. Norwood; Holger Hoehn
- Publisher
- Springer
- Year
- 1976
- Tongue
- English
- Weight
- 626 KB
- Volume
- 35
- Category
- Article
- ISSN
- 0340-6717
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A 13-year-old girl presented with microcephaly, short and broad neck, low posterior hairline, congenital heart disease, limitation of joint movement, and mild mental retardation. Chromosomal analysis showed interstitial deletion of band p14 of the short arm of chromosome 7. The patient's physical an
A female infant with presumptive deletion of the 7p2 region and an unusual translocation between a part of the short arm of chromosome 1 and a deleted chromosome 7 is described. The patient showed congenital craniosynostosis of the coronal and metopic sutures; marked turricephaly; hypotelorism; deep