Isodicentric X chromosome and mosaicism: report on two cases of 45,X/46,X,idic(Xq)/47,X,idic(Xq),idic(Xq) and review of the literature.
We present 2 instances of Ullrich-Turner syndrome with mosaicism 45,X/46,X,idic(Xq)/47, X,idic(Xq),idic(Xq) and X-isochromosomes with 2 C-bands. The mosaicism with the 3 cell lines points to the presence of the isodicentric chromosome in the zygote and a subsequent nondisjunction event.
Melaragno
M I
MI
Disciplina de Genética, Escola Paulista de Medicina, São Paulo, Brazil.
Fakih
L M
LM
Cernach
M C
MC
Maccagnan
P
P
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D000568:Amenorrhea / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D002871:Chromosome Banding; D025063:Chromosome Disorders; D004303:Dosage Compensation, Genetic; D005260:Female; D006801:Humans; D009030:Mosaicism; D009630:Nondisjunction, Genetic; D010053:Ovary / Q000002:abnormalities*; D014960:X Chromosome / Q000648:ultrastructure*