Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms

• Published in: Journal of human genetics Vol. 43; no. 3; pp. 178 - 181
• Main Authors: Mizugishi, K, Yamanaka, K, Kuwajima, K, Kondo, I
• Format: Journal Article
• Language: English
• Published: England 01.01.1998
• Subjects: Child, Preschool; Chromosome Banding; Chromosomes, Human, Pair 7; Female; Genetic Markers; Humans; Karyotyping; Male; Pedigree; Polymorphism, Genetic; Sequence Deletion; Spasms, Infantile - genetics; Williams Syndrome - genetics
• ISSN: 1434-5161; 1435-232X
• DOI: 10.1007/s100380050064

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.