Abstract
Interstitial deletion of 7q11.23–q21.11 was identified by cytogenetic methods in a 4-year-old boy with Williams syndrome (WS) and infantile spasms. Deletion of the elastin (ELN) gene and the DNA polymorphic markers, D7S1870, D7S2490, D7S2518, and D7S2421, were identified in the patient, but the loci for D7S653 and D7S675 were not involved. Zackowski et al. (1990) reported that 6 of 16 patients with the interstitial deletion of 7q11.2–q22 had abnormal electro encephalograms, or seizures, or both, and that infantile spasms were present in 2 of the 6 patients. WS is a well defined developmental disorder characterized by distinct facial features, gregarious personality, and congenital heart defects. Seizures are not generally associated with this syndrome. WS commonly is characterized by deletion of the loci for ELN and D7S1870, but not those for D7S2490, D7S2518, or D7S2421. This suggests that a gene responsible for infantile spasms is located in the 2.7-cM interval between loci D7S1870 and D7S675.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Additional information
Received: April 27, 1998 / Accepted: May 29, 1998
Rights and permissions
About this article
Cite this article
Mizugishi, K., Yamanaka, K., Kuwajima, K. et al. Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms. J Hum Genet 43, 178–181 (1998). https://doi.org/10.1007/s100380050064
Published:
Issue Date:
DOI: https://doi.org/10.1007/s100380050064
This article is cited by
-
Infantile spasms in Williams–Beuren syndrome with typical deletions of the 7q11.23 critical region and a review of the literature
Acta Neurologica Belgica (2017)
-
Williams Syndrome with Infantile Spasms
The Indian Journal of Pediatrics (2015)
-
Copy number variants at Williams–Beuren syndrome 7q11.23 region
Human Genetics (2010)
-
Sudden unexpected death in a toddler with Williams syndrome
Forensic Science, Medicine, and Pathology (2008)