title: COFS syndrome with familial 1;16 translocation.
abstract: We report on an Egyptian girl with phenotypic abnormalities of cerebro-oculofacio-skeletal syndrome. She had microcephaly, bilateral congenital cataract, nystagmus, long ear pinnae, camptodactyly, prominent heels, coxa valga, kyphosis and flexure contracture of the elbows and knees. 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 mother with a similar balanced translocation mosaicism. We suggest that genes for COFS syndrome could be located on chromosome 1q23 or 16q13. We recommend chromosomal analysis and DNA studies in cases with COFS manifestations.
authors.affiliation: Human Genetics Department, National Research Centre, Cairo, Egypt.
authors.forename: S A
authors.initials: SA
authors.lastname: Temtamy
authors.forename: N A
authors.initials: NA
authors.lastname: Meguid
authors.forename: A
authors.initials: A
authors.lastname: Mahmoud
authors.forename: H H
authors.initials: HH
authors.lastname: Afifi
authors.forename: A
authors.initials: A
authors.lastname: Gerzawy
authors.forename: M S
authors.initials: MS
authors.lastname: Zaki
mesh_terms: D001842:Bone and Bones / Q000002:abnormalities; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000000981:diagnostic imaging / Q000235:genetics*; D025063:Chromosome Disorders; D003241:Consanguinity; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics*; D002658:Developmental Disabilities; D005260:Female; D006801:Humans; D007621:Karyotyping; D011859:Radiography; D012886:Skull / Q000000981:diagnostic imaging; D013577:Syndrome; D014178:Translocation, Genetic / Q000235:genetics*