title: A recombinant X chromosome in a short statured girl resulting from a maternal pericentric inversion.
abstract: A 7 3/4-year-old girl with short stature was found to have a recombinant (X),dup q chromosome resulting from an apparently unique pericentric inversion (X)(p11.2q26) present in her mother and maternal grandmother. The recombinant X chromosome was shown to be late replicating and the inversion X chromosome to be randomly inactivated. This appears to be only the eighth report (7 female, 1 male) of a recombinant resulting from an X pericentric inversion despite all diagnosed females having mild clinical abnormalities. Reasons for the rarity of such recombinant X chromosomes in man are examined.
mesh_terms: D002648:Child; D007446:Chromosome Inversion; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D012729:Sex Chromosome Aberrations; D014960:X Chromosome