Restudy of the original marker X family.
Restudy of the original marker-X family confirmed recent observations that this XLMR disorder is associated with large testes and slightly abnormal ears. However, other aspects of the phenotype were variable and a distinct facies was not evident. Significant differences in marker-X frequency between two laboratories processing the same samples were observed. Possibly, the combination of more cells and a longer culture time in one laboratory led to a greater depletion of critical nutrients and a higher frequency of the marker-X, but additional studies are needed. No evidence was found of a diminishing frequency of the marker-X over a 15 year period.
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002869:Chromosome Aberrations; D004423:Ear / Q000002:abnormalities; D005260:Female; D005500:Follow-Up Studies; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D010641:Phenotype; D013737:Testis / Q000002:abnormalities; D014960:X Chromosome