COFS SYNDROME WITH FAMILIAL 1-16-TRANSLOCATION

We report on an Egyptian girl with phenotypic abnormalities of cerebro -oculo-facio-skeletal syndrome. She had microcephaly, bilateral congen ital cataract, nystagmus, long ear pinnae, camptodactyly, prominent he els, coxa valga, kyphosis and flexure contracture of the elbows and kn ees. CT scan showed bilateral symmetrical intracranial calcifications. In addition, she had an apparently balanced translocation: 46,XX,t(1; 16)(q23;q13) in all cells transmitted from a phenotypically normal mot her with a similar balanced translocation mosaicism. We suggest that g enes for COFS syndrome could be located on chromosome 1q23 or 16q13. W e recommend chromosomal analysis and DNA studies in cases with COFS ma nifestations.