[18 q deletion in mother and daughter (author's transl)].
Transmission of 18 q deletion from a mother to her daughter is described in this report. By means of diverse banding techniques the same deletion was proven in both cases. Partial deletion on the long arm of chromosome 18 produces typical malformations and clinical characteristics which are compatible with life. In case of propagation it can be transmitted as a dominant characteristic.
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002902:Chromosomes, Human, 16-18; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005532:Foot Deformities, Congenital; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008297:Male; D011596:Psychomotor Disorders / Q000235:genetics; D014034:Toes / Q000002:abnormalities
18q-deletion bei mutter und Tochter