Characterization of a small supernumerary ring X chromosome by fluorescence in situ hybridization
- 1 December 1993
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 47 (8) , 1153-1156
Abstract
We report on a male with mild learning disabilities who has a supernumerary marker chromosome. The marker chromosome was defined by fluorescence in situ hybridization as a ring X chromosome with breakpoints in the juxacentromeric region. Replication studies suggest that the ring X is late‐replicating. However XIST, a gene in the X inactivation centre interval which is expressed exclusively from the inactive X chromosome, is not present on the marker, nor is it expressed in the patient's cells. These results are discussed with respect to karyotype‐phenotype correlations and X inactivation.Keywords
This publication has 14 references indexed in Scilit:
- Prenatal investigation of a 45,X/46,X,r(?) karyotype in amniocytes using fluorescence in situ hybridization with an X‐centromeric probePrenatal Diagnosis, 1992
- 45,X/46,X, + r(X) can have a distinct phenotype different from Ullrich‐Turner syndromeAmerican Journal of Medical Genetics, 1992
- A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosomeNature, 1991
- Localization of the X inactivation centre on the human X chromosome in Xq13Nature, 1991
- An investigation of ring and dicentric chromosomes found in three Turner's syndrome patients using DNA analysis and in situ hybridisation with X and Y chromosome specific probes.Journal of Medical Genetics, 1991
- Determining the origins and the structural aberrations of small marker chromosomes in two cases of 45,X/46,X, +mar by use of chromosome‐specific DNA probesAmerican Journal of Medical Genetics, 1990
- A case of 46,XX,r(X) (p1q1) diagnosed byin situhybridizationClinical Genetics, 1990
- Marker chromosomes in A series of 10000 prenatal diagnoses. Cytogenetic and follow‐up studiesPrenatal Diagnosis, 1987
- Characterization of the Supernumerary Chromosome in Cat Eye SyndromeScience, 1986
- CHROMOSOMES IN COLOBOMA AND ANAL ATRESIAThe Lancet, 1965