American Journal of Medical Genetics 136A:38–44 (2005) Distinct Phenotype Associated With a Cryptic

Telomeres are gene rich regions with a high recombination rate. Cryptic subtelomeric rear-rangements are estimated to account for 5 % of mental retardation/malformation syndromes. Here we present the first patient with a deletion of 19p13.3, identified by subtelomeric FISH analy-sis. His features included a distinctive facial appearance, cleft palate, hearing impairment, congenital heart malformation, keloid scarring, immune dysregulation, and mild learning diffi-culties. Subtelomeric FISH analysis identified a deletion of 19p13.3-pter. The deletion size was determined to be 1.2 Mb by FISH analysis. It extended from within the chromosomal region covered by BAC RP11-50C6 to 19pter. The deleted area encompassed approximately 60 genes. Fif-teen possible candidate genes were considered with respect to the phenotype, including follista-tin-related precursor 3 (FSTL3) and serine-threo-nine kinase 11 (STK-11). 2005 Wiley-Liss, Inc. KEY WORDS: subtelomeric deletion; chromo-some 19p13.3; immune deficiency