Cardiovascular anomaly in Rieger Syndrome, Heterogeneity or contiguity?
نویسندگان
چکیده
منابع مشابه
Genetic heterogeneity in Rieger eye malformation.
A three generation family with Rieger eye malformation sequence is described. No other abnormalities were present apart from the eye malformation. Linkage to EGF and D4S193 localised in 4q25 was excluded and this indicates that Rieger eye malformation is genetically different from typical Rieger syndrome with teeth and umbilical anomalies.
متن کاملRieger syndrome: case report.
Rieger syndrome is a dysembryogenetic disease in which labyrinthic damage can be associated with other genetic anomalies. The case presented here is of a patient who has bilateral dysgenesis of the iris, with bulbar atrophy and dyscoria. The patient does not present any malformation of the craniofacial structures, of the periumbilical skin, or of the skeletal bones. The case is, therefore, a va...
متن کاملEvidence that Rieger syndrome maps to 4q25 or 4q27.
We report a baby with the features of Rieger syndrome and a de novo interstitial deletion of 4q which includes band 4q26 and an adjoining GTL light band, either q25 or q27. Rieger syndrome is provisionally mapped to 4q23----q27 but band 4q26 has been excluded as a possible site, suggesting that Rieger syndrome must map to a band, either 4q25 or 4q27, adjoining 4q26.
متن کاملNovel mutation in FOXC1 wing region causing Axenfeld-Rieger anomaly.
PURPOSE To determine the possible molecular genetic defect underlying Axenfeld-Rieger anomaly (ARA) and to identify the pathogenic mutation causing this anterior segment dysgenesis in an Indian pedigree. METHODS The FOXC1 gene was amplified from genomic DNA of members of an ARA-affected family and control subjects using four novel sets of primers. The amplicons were directly sequenced, and th...
متن کاملThe Axenfeld syndrome and the Rieger syndrome.
A family is reported in which both the syndrome of Axenfeld and the eye malformations of the syndrome of Rieger occur, indicating that both may be expressions of the same gene. We also review the associated anomalies already reported, emphasise their high incidence, suggest that these are not accidental associations, and propose some possible explanations for the high incidence.
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Acta Ophthalmologica Scandinavica
سال: 1998
ISSN: 1395-3907
DOI: 10.1034/j.1600-0420.1998.760424.x