A. S. Iakovleva

STANKIEWICZ–ISIDOR SYNDROME CAUSED BY A MICRODELETION OF THE LONG ARM OF CHROMOSOME 17: A CASE REPORT AND LITERATURE REVIEW

Stankiewicz–Isidor syndrome (STISS; OMIM #617516) is a rare autosomal dominant disorder caused by haploinsufficiency of the PSMD12 gene. Most reported cases are associated with point variants in the PSMD12 gene, whereas microdeletions involving this locus are much rarer. We present a clinical case of an 8-month-old gir...