[Contribution to information and genetic counseling in Mekkel's syndrome (author's transl)].
The deformity syndrome nowadays named after Meckel is characterized by the following principal features: occipital encephalocele, cystic kidneys and a polydactyly. According to the available findings in twins and families, an autosomal recessive lethal syndrome is involved. In 8 (= 16.6%) of 48 families, the parents of the feature carrier were blood relations. Heterozygous anlage carriers cannot yet be recognized as such. To make a statement in genetic counselling today, ultrasonic diagnosis and an amniocentesis must be carried out early in a pregnancy at risk.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D000649:Amniocentesis; D000653:Amniotic Fluid / Q000032:analysis; D002526:Cerebellar Diseases / Q000235:genetics; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003394:Craniofacial Dysostosis / Q000235:genetics; D004200:Diseases in Twins; D004677:Encephalocele / Q000235:genetics; D005260:Female; D005817:Genetic Counseling; D006228:Hand Deformities, Congenital; D006579:Heterozygote; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000150:complications / Q000235:genetics; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D014463:Ultrasonography; D000509:alpha-Fetoproteins / Q000032:analysis
D000509:alpha-Fetoproteins
Beitrag zur Kenntnis des Meckelschen Syndroms und zur genetischen Beratung