Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms
β Scribed by K. Mizugishi; Keiko Yamanaka; Katsuko Kuwajima; Ikuko Kondo
- Publisher
- Nature Publishing Group
- Year
- 1998
- Tongue
- English
- Weight
- 202 KB
- Volume
- 43
- Category
- Article
- ISSN
- 1435-232X
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We describe two children with Williams syndrome and infantile spasms. The diagnosis of Williams syndrome was confirmed by documentation of a deletion of the elastin gene/Williams syndrome region at 7q11.23. The diagnosis of infantile spasms was confirmed through the presence of interictal hypsarrhyt
## Abstract Rieger syndrome (RS; OMIM 180500) is a rare autosomal dominant disorder of morphogenesis, with ocular and systemic abnormalities and variability in phenotypic expression. Some patients with RS presented with a deletion of the band 4q25 to which the homeobox gene __PIT X2__ (former __RIE