De novo paracentric inversion in a microcephalic boy: 46,XY, inv(14)(q13q24).
A 3 1/2 year-old severely microcephalic male is reported with a paracentric inversion in the long arm of a chromosome 14. This is the second report of nonfamilial paracentric inversion in man.
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D007446:Chromosome Inversion; D002901:Chromosomes, Human, 13-15; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000235:genetics*