An interstitial deletion of the long arm of chromosome 13.
A case of an interstitial deletion of chromosome 13, identified as 46,XY,del(13)(q22q31), is reported in a child with psychomotor retardation, prominent low-set ears, epicanthus, hypertelorism, broad nasal bridge, hypoplastic fifth fingers and abnormal dermatoglyphics. This patient is compared to others in the literature with a similar deletion.
Roland
B
B
Department of Pathology, University of Calgary, Canada.
Lowry
R B
RB
Robertson
A S
AS
Cox
D M
DM
D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13; D003878:Dermatoglyphics; D002658:Developmental Disabilities / Q000235:genetics*; D004431:Ear, External / Q000002:abnormalities; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D007621:Karyotyping; D008297:Male