Unbalanced mosaic karyotypes with different structural abnormalities involving a common chromosome region: report of two cases.
We report on 2 cases with different de novo unbalanced mosaic karyotypes in which each cell line had a different structural abnormality involving a common chromosome region: 46,XX,del(11)(q23.3)/46,XX.-11, + der(11)t(11;?)(q23.3;?) and 46,X,idic(Xq)/46,X,idic(Xq),-12, + der(12)t(X;12)(p11.2;p13.3). Molecular-cytogenetic analysis confirmed the origin of the derivative 12 chromosome in the latter. We present a literature review of reports with mosaic cell lines of structural chromosome abnormalities that share the same chromosome breakpoint.
Pettenati
M J
MJ
Department of Pediatrics, Bowman Gray School of Medicine of Wake Forest University, Winston-Salem, North Carolina.
Teot
L A
LA
Smith
C
C
Hayworth
R
R
Thomas
I T
IT
Veille
J C
JC
Rao
P N
PN
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002460:Cell Line; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11; D002881:Chromosomes, Human, Pair 12; D005260:Female; D005315:Fetal Diseases / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D009030:Mosaicism; D011247:Pregnancy; D014178:Translocation, Genetic; D014960:X Chromosome