Lack of X inactivation: loss of one X inactivation center in a case with mos45,X,-21, +der(21)t(X;21) (p21.3;p11.2)/46,X,t(X;21) (p21.3;p11.2).
We present a girl with a mos45,X,-21, +der(21)t(X;21) (p21.3;p11.2)/46,X,t(X;21) (p21.3;p11.2) chromosome constitution. The ratio of these cells was 59/26 in phytohemagglutinin (PHA)-stimulated lymphocytes. The 45,X,der(21)t(Xp-;21p+) cells lacked an X inactivation center located at Xq13 on the derivative X chromosome; in these cells, the whole normal X chromosome and the distal part of Xp translocated onto the derivative chromosome 21 were early replicating. She had moderate mental retardation and other findings different from those that occur in the Ullrich-Turner syndrome. Her phenotype may be due to the functional excess of the distal part of Xp on the derivative 21 in 45,X,der(21)t(Xp-;21p+) cells; thus, this might be another type of the "lack of X-inactivation" syndrome.
Ishikiriyama
S
S
Division of Medical Genetics, Chiba Children's Hospital, Japan.
Iai
M
M
Tanabe
Y
Y
D002871:Chromosome Banding; D002872:Chromosome Deletion; D002891:Chromosomes, Human, Pair 21; D003937:Diagnosis, Differential; D004303:Dosage Compensation, Genetic; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D009030:Mosaicism; D009697:Nucleolus Organizer Region; D012729:Sex Chromosome Aberrations / Q000175:diagnosis; D013577:Syndrome; D014178:Translocation, Genetic; D014424:Turner Syndrome / Q000175:diagnosis; D014960:X Chromosome