Distinct 15q genotypes in Russell-Silver and ring 15 syndromes

✍ Scribed by Rogan, Peter K.; Seip, James R.; Driscoll, Daniel J.; Papenhausen, Peter R.; Johnson, Virginia P.; Raskin, Salmo; Woodward, Amy L.; Butler, Merlin G.

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 33 KB
• Volume: 62
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19960301)62:1<10::aid-ajmg3>3.0.co;2-#

✦ Synopsis

ring 15 chromosome syndrome, Russell-Silver syndrome, chromosome 15, insulin-like growth factor receptor, gene dosage, growth retardation, uniparental inheritance, genomic imprinting, Prader-Willi syndrome, Angelman syndrome * H, heterozygous (parents not available); I, intact (parental origin indeterminate); ni, not informative; nd, no data available. Locus order is derived from Beckmann et al. [ 19931, Malcolm and Donlon 119941, and the Genome Database. * Copy number based on calibrated gene dosage. STRP polymorphic locus.