title: Familial inv(X) (p22q22): ovarian dysgenesis in two sisters with del Xq and fertility in one male carrier.
abstract: A recombinant chromosome with Xp duplication and Xq deletion was found in two sisters with normal height and gonadal dysgenesis. Their mother and other four relatives, including a fertile male, carried an inv(X) (p22q22); the inverted X was randomly inactivated in one female carrier. The abnormal X chromosome showed inactivation in all the examined cells. This is the tenth report of a recombinant X chromosome. A review of the literature shows that: i) most female carriers of inv(X) are phenotypically normal and fertile; ii) recombinants having short-arm duplication and long-arm deletion are associated with ovarian failure and normal or tall stature, whereas the reciprocal recombinants are compatible with fertility but cause short stature; and iii) except for one index case, all male carriers have a normal phenotype and 11 of them (from eight families) are of proven fertility. Moreover, no instance of male infertility has been documented.
authors.affiliation: Instituto Nacional de Perinatología, Secretaría de Salud, Mexico City, D.F., México.
authors.forename: M L
authors.initials: ML
authors.lastname: Madariaga
authors.forename: H
authors.initials: H
authors.lastname: Rivera
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D007446:Chromosome Inversion; D004303:Dosage Compensation, Genetic; D005192:Family Health; D005260:Female; D005298:Fertility / Q000235:genetics / Q000502:physiology; D006059:Gonadal Dysgenesis / Q000235:genetics / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D008297:Male; D005810:Multigene Family / Q000235:genetics / Q000502:physiology; D009679:Nuclear Family; D010375:Pedigree; D010641:Phenotype; D012729:Sex Chromosome Aberrations; D014960:X Chromosome / Q000235:genetics*