title: Early prenatal diagnosis of cartilage-hair hypoplasia (CHH) with polymorphic DNA markers.
abstract: Cartilage-hair hypoplasia (CHH) is an autosomal recessive disorder resulting in short stature and hypoplasia of hair. Associated features include impaired T-cell-mediated immunity, deficient erythropoiesis, gastrointestinal dysfunction, and an increased risk of malignancies. As the condition may, in some cases, be severe or even fatal during childhood, families with a previous history of CHH may wish to have prenatal diagnosis. We have previously assigned the gene for CHH to the proximal 9p by linkage analysis using several polymorphic DNA markers. Here we report the prenatal testing for CHH in three Finnish and one Australian family using three DNA markers closely linked to the CHH gene. In three cases a fetus unaffected with CHH was predicted at the probability level of more than 94 per cent. In one case, an affected fetus was predicted. The results were in concordance with ultrasonography performed for all fetuses. The three children born to date were unaffected as predicted. The DNA marker-based analysis thus provides a useful method for early prenatal testing for CHH.
authors.affiliation: Department of Medical Genetics, University of Helsinki, Finland.
authors.forename: T
authors.initials: T
authors.lastname: Sulisalo
authors.forename: D
authors.initials: D
authors.lastname: Sillence
authors.forename: M
authors.initials: M
authors.lastname: Wilson
authors.forename: M
authors.initials: M
authors.lastname: Ryynänen
authors.forename: I
authors.initials: I
authors.lastname: Kaitila
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics; D005819:Genetic Markers; D006197:Hair / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D012307:Risk Factors
chemical_list: D005819:Genetic Markers