Locus for cystic fibrosis.
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Chromosomes, Human, 13-15↗
Biomedical subjects
N L Blackwell
Publications and source records attributed to N L Blackwell.
Familial pericentric inversion 19.
Several members in two families were found to have a pericentric inversion of chromosome 19. A review of four previous cases, together with those reported here, suggests that inversion of chromosome 19 is not related to the phenotypic features of the probands. Furthermore, there has been no report of an affected subject resulting from a duplication deficiency product of inverted chromosome 19 among the offspring of inversion heterozygotes. The suggested association of aneuploidy in the inversion carriers is also discussed.
Chromosome Banding↗
Dispermic origin of a 69,XXY triploid.
Triploidy, 69XXY, was found in a newborn with multiple abnormalities. Conception had occurred shortly after the mother ceased taking an oral contraceptive. The infant carried a pair of 21s with giant satellites; of the parents, only the father carried a giant-satellited 21. This, together with the XXY constitution, suggested a dispermic origin of the triploidy.
Abnormalities, Multiple↗
A case of double aneuploidy, 47,XXY,14-,t(13q14q)+, also probably homozygous for the cystic fibrosis gene.
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Aneuploidy↗