Campomelic dysplasia with sex reversal: morphological and cytogenetic studies of a case.
Morphological and cytogenetic studies undertaken in a case of sex reversed campomelic dysplasia revealed the presence of primary follicles within the dysgenetic gonads and a familial balanced chromosome translocation t(5;8), a hitherto unreported combination of unusual findings.
D001848:Bone Diseases, Developmental / Q000235:genetics / Q000473:pathology*; D002871:Chromosome Banding; D002905:Chromosomes, Human, 4-5; D002906:Chromosomes, Human, 6-12 and X; D012734:Disorders of Sex Development; D005835:Genitalia / Q000473:pathology; D006801:Humans; D010375:Pedigree; D014178:Translocation, Genetic