Familial inversion of chromosome No. 8: an affected child and a carrier fetus.
An infant with multiple congenital anomalies was found to have a duplication-deficiency disorder involving chromosome No. 8. The abnormality was identified as an unbalanced recombinant inherited from the mother who was a carrier of a pericentric inversion of chromosome No. 8. The inversion was observed in several members of this family, including a fetus who was diagnosed by an amniocentesis. The inverted chromosome was demonstrated only with the use of a differential staining technique, in this case, by trypsin-Giemsa banding.
D000649:Amniocentesis; D002869:Chromosome Aberrations; D007446:Chromosome Inversion; D002906:Chromosomes, Human, 6-12 and X; D003720:Densitometry; D005260:Female; D005333:Fetus / Q000166:cytology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011995:Recombination, Genetic; D013194:Staining and Labeling