Case Reports
doi: 10.1136/jmg.16.4.254.
X;15 translocation in a retarded girl: X inactivation pattern and attempt to localise the hexosaminidase A and other loci
- PMID: 290816
- PMCID: PMC1012665
- DOI: 10.1136/jmg.16.4.254
Item in Clipboard
Case Reports
X;15 translocation in a retarded girl: X inactivation pattern and attempt to localise the hexosaminidase A and other loci
J Med Genet.
1979 Aug.
Abstract
Cytogenetic studies on a retarded girl showed a complex S;15 translocation, karyotype 45,X,-15,+t(X15). The translocation X chromosome was non-randomly partially inactivated, the inactivation being mainly confined to the X segment and in some cells only to the X long arm. Gene marker studies failed to show anomalous segregation of the hexosaminidase A gene or any other gene markers tested.
Similar articles
-
Gene for incontinentia pigmenti maps to band Xp11 with an (X;10) (p11;q22) translocation.Clin Genet. 1987 Jul;32(1):66-9. doi: 10.1111/j.1399-0004.1987.tb03326.x. Clin Genet. 1987. PMID: 3621656
-
A possible exception to the critical region hypothesis.Am J Hum Genet. 1981 Jan;33(1):61-6. Am J Hum Genet. 1981. PMID: 7468594 Free PMC article.
-
Fragile site at 12q13 associated with phenotypic abnormalities.J Med Genet. 1984 Jun;21(3):216-7. doi: 10.1136/jmg.21.3.216. J Med Genet. 1984. PMID: 6748019 Free PMC article.
-
Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations.Am J Hum Genet. 1994 Jul;55(1):87-95. Am J Hum Genet. 1994. PMID: 8023855 Free PMC article. Review.
-
Duplication of the short arm of the X chromosome in mother and daughter.Hum Genet. 1993 May;91(4):395-400. doi: 10.1007/BF00217366. Hum Genet. 1993. PMID: 8500796 Review.
Cited by
-
Incontinentia pigmenti and X-autosome translocations. Non-isotopic in situ hybridization with an X-centromere-specific probe (pSV2X5) reveals a possible X-centromeric breakpoint in one of five published cases.Hum Genet. 1989 Feb;81(3):269-72. doi: 10.1007/BF00279002. Hum Genet. 1989. PMID: 2921037
-
X inactivation as a mechanism of selection against lethal alleles: further investigation of incontinentia pigmenti and X linked lymphoproliferative disease.J Med Genet. 1992 Sep;29(9):608-14. doi: 10.1136/jmg.29.9.608. J Med Genet. 1992. PMID: 1404291 Free PMC article.
-
Medical genetics in South Africa.J Med Genet. 1990 Dec;27(12):760-79. doi: 10.1136/jmg.27.12.760. J Med Genet. 1990. PMID: 2074562 Free PMC article. Review. No abstract available.
-
Three Finnish incontinentia pigmenti (IP) families with recombinations with the IP loci at Xq28 and Xp11.Hum Genet. 1993 Mar;91(2):185-9. doi: 10.1007/BF00222723. Hum Genet. 1993. PMID: 8096494
-
Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene?Hum Genet. 1995 Oct;96(4):485-9. doi: 10.1007/BF00191813. Hum Genet. 1995. PMID: 7557977
References
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
