A small one-band paracentric inversion inv (4) (p15.3p16.3).
A neonate with aniridia was found to have a one band paracentric inversion of the short arm of chromosome 4. This was initially difficult to interpret on high resolution banding. The inversion was present in three generations of the family.
Smith
A
A
Cytogenetics Laboratory, Children's Hospital, Camperdown, Sydney, Australie.
Watt
A J
AJ
Cummins
M
M
Gardner
R J
RJ
Wilson
M
M
D015783:Aniridia / Q000235:genetics*; D007446:Chromosome Inversion; D002894:Chromosomes, Human, Pair 4; D005190:Family; D005901:Glaucoma / Q000151:congenital* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male