De novo deletion of chromosome 18q in a baby with Harlequin ichthyosis
β Scribed by Stewart, H. ;Smith, P.T. ;Gaunt, L. ;Moore, L. ;Tarpey, P. ;Andrew, S. ;Dady, I. ;Rifkin, R. ;Clayton-Smith, J.
- Book ID
- 101449388
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 141 KB
- Volume
- 102
- Category
- Article
- ISSN
- 0148-7299
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## Abstract Interstitial deletions of 10q are rare, and only one patient with a deletion confined to chromosome band 10q22 has been reported so far. We report on a 2 6/12βyearβold girl with a constitutional interstitial deletion of one homologue of 10q [karyotype: 46,XX,del(10)(q22.2q22.3)de novo].
## Abstract Interstitial deletions involving the chromosomal band 15q15 are very rare. A total of five cases were previously reported. Here another case of a 15q15.2βq22.2 deletion is reported, presenting with severe craniosynostosis of coronary, metopic, and sagittal sutures. The chromosome 15 wit