Abstract
A mentally retarded male patient with a structurally abnormal X chromosome is reported (karyotype 46, dir dup (X)(p11.2 leads to p21.2)Y). In the normal mother a similar X chromosome duplication was found, which was preferentially inactivated. Xg blood groups were studied in the family. The findings indicated that recombination took place at maternal meiosis, as both karyotypically normal sons and the proband were Xg(a-), the mother being Xg(a+). Functional X chromosome disomy may explain clinical abnormalities in reported patients with X duplication and a normal Y chromosome.
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- Bernstein R., Jenkins T., Dawson B., Wagner J., Dewald G., Koo G. C., Wachtel S. S. Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H--Y antigen and Xg blood group findings. J Med Genet. 1980 Aug;17(4):291–300. doi: 10.1136/jmg.17.4.291. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Buhler E. M., Jurik L. P., Voyame M., Buhler U. K. Presumptive evidence of two active X chromosomes in somatic cells of a human female. Nature. 1977 Jan 13;265(5590):142–144. doi: 10.1038/265142a0. [DOI] [PubMed] [Google Scholar]
- Davidenkova E. F., Verlinskaja D. K., Mashkova M. V. Structural aberrations of the X chromosome in man. Hum Genet. 1978 Apr 24;41(3):269–279. doi: 10.1007/BF00284761. [DOI] [PubMed] [Google Scholar]
- Hagemeijer A., Hoovers J., Smit E. M., Bootsma D. Replication pattern of the X chromosomes in three X/autosomal translocations. Cytogenet Cell Genet. 1977;18(6):333–348. doi: 10.1159/000130780. [DOI] [PubMed] [Google Scholar]
- Laurent C., Biemont M. C., Dutrillaux B. Sur quatre nouveax cas de translocation du chromosome X chez l'homme. Humangenetik. 1975;26(1):35–46. doi: 10.1007/BF00280283. [DOI] [PubMed] [Google Scholar]
- Sacchi N., Dalprà L., Kehyayan E. A duplication-deficiency X chromosome in a girl with severe mental retardation. Hum Genet. 1980;54(2):279–281. doi: 10.1007/BF00278986. [DOI] [PubMed] [Google Scholar]
- Steinbach P., Horstmann W., Scholz W. Tandem duplication dup(X)(q13q22) in a male proband inherited from the mother showing mosaicism of X-inactivation. Hum Genet. 1980;54(3):309–313. doi: 10.1007/BF00291574. [DOI] [PubMed] [Google Scholar]
- Therman E., Patau K. Abnormal X chromosomes in man: origin, behavior and effects. Humangenetik. 1974;25(1):1–16. doi: 10.1007/BF00281002. [DOI] [PubMed] [Google Scholar]
- Wolf U., Fraccaro M., Mayerová A., Hecht T., Maraschio P., Hameister H. A gene controlling H-Y antigen on the X chromosome. Tentative assignment by deletion mapping to Xp223. Hum Genet. 1980;54(2):149–154. doi: 10.1007/BF00278963. [DOI] [PubMed] [Google Scholar]