PSEUDOACHONDROPLASIA WITH DELETION DE-NOVO [DEL(11)(Q21Q22.2)]

Pseudoachondroplasia (PSACH) is a relatively common osteochondrodyspla sia characterized clinically by short-limbed short stature with normal face, and radiographically by platyspondyly and dysplasias of epiphys es and metaphyses of the tubular bones, Recently, mutation of cartilag e oligomeric matrix protein has been identified in PSACH, However, cli nical variability and genetic heterogeneity have been reported in PSAC H, indicating a possible existence of a second PSACH gene. Here, we re port on a patient with a typical severe form of PSACH who had a de nov o interstitial deletion in the long arm of chromosome 11 [del(11) (q21 q22.2)]. The size of the deletion was estimated at 0.8-7.3 Mb using fl uorescent in situ hybridization (FISH), This deletion may contain or d isrupt a second PSACH locus. (C) 1998 Wiley-Liss, Inc.