title: Early prenatal diagnosis of the ICF syndrome.
abstract: The ICF syndrome (immunodeficiency, (para)centromeric instability and facial abnormalities) is a rare autosomal recessive disorder with characteristic cytogenetic aberrations of chromosomes 1, 9 and 16 in lymphocytes. Previously, only one case has been diagnosed prenatally in the second trimester of pregnancy by fetal blood sampling. We report the first early prenatal exclusion of the ICF syndrome by chorionic villous sampling (CVS) and linkage analysis in a family with a previous affected child. The fetus was heterozygous for marker D20S850 closely linked to the ICF locus. The family was counselled of a probability of over 90% that the fetus would be unaffected. Postnatal chromosome analysis on peripheral blood was normal and thus confirmed the prenatal diagnosis.
authors.affiliation: Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Hospital, Stockholm, Sweden. erik.bjorck@cmm.ki.se
authors.forename: E J
authors.initials: EJ
authors.lastname: Björck
authors.forename: T H
authors.initials: TH
authors.lastname: Bui
authors.forename: C
authors.initials: C
authors.lastname: Wijmenga
authors.forename: U
authors.initials: U
authors.lastname: Grandell
authors.forename: M
authors.initials: M
authors.lastname: Nordenskjöld
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D025063:Chromosome Disorders; D002878:Chromosomes, Human, Pair 1; D002890:Chromosomes, Human, Pair 20; D005145:Face / Q000002:abnormalities*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics*; D005817:Genetic Counseling; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D013577:Syndrome