TY - JOUR
T1 - Loss of the Y chromosome PAR2 region and additional rearrangements in two familial cases of satellited Y chromosomes
T2 - Cytogenetic and molecular analysis
AU - Velissariou, V.
AU - Sismani, C.
AU - Christopoulou, S.
AU - Kaminopetros, P.
AU - Hatzaki, A.
AU - Evangelidou, P.
AU - Koumbaris, G.
AU - Bartsocas, C. S.
AU - Stylianidou, G.
AU - Skordis, N.
AU - Diakoumakos, A.
AU - Patsalis, P. C.
PY - 2007/7
Y1 - 2007/7
N2 - Two cases of rare structural aberrations of the Y chromosome were detected: a del(Y) (q12) chromosome in a child with mild dysmorphic features, obesity and psychomotor delay, and two identical satellited Y chromosomes (Yqs) in a normal twin, which were originally observed during routine prenatal diagnosis. In both cases a Yqs chromosome was detected in the father which had arisen from a reciprocal translocation involving the short arm of chromosome 15 and the heterochromatin of the long arm of the Y chromosome (Yqh). Cytogenetic and molecular studies demonstrated that in the reciprocal product of chromosomes 15 and Y PAR2 could not be detected, showing that PAR2 had been deleted. It is discussed whether the translocation of the short arm of an acrocentric chromosome to the heterochromatin of the long arm of the Y chromosome causes instability of this region which results either in loss of genetic material or interference with the normal mechanism of disjunction.
AB - Two cases of rare structural aberrations of the Y chromosome were detected: a del(Y) (q12) chromosome in a child with mild dysmorphic features, obesity and psychomotor delay, and two identical satellited Y chromosomes (Yqs) in a normal twin, which were originally observed during routine prenatal diagnosis. In both cases a Yqs chromosome was detected in the father which had arisen from a reciprocal translocation involving the short arm of chromosome 15 and the heterochromatin of the long arm of the Y chromosome (Yqh). Cytogenetic and molecular studies demonstrated that in the reciprocal product of chromosomes 15 and Y PAR2 could not be detected, showing that PAR2 had been deleted. It is discussed whether the translocation of the short arm of an acrocentric chromosome to the heterochromatin of the long arm of the Y chromosome causes instability of this region which results either in loss of genetic material or interference with the normal mechanism of disjunction.
KW - PAR2 pseudoautosomal region
KW - Y chromosome satellited (Yqs)
UR - http://www.scopus.com/inward/record.url?scp=34447318057&partnerID=8YFLogxK
U2 - 10.1016/j.ejmg.2007.04.004
DO - 10.1016/j.ejmg.2007.04.004
M3 - Article
C2 - 17584536
AN - SCOPUS:34447318057
SN - 1769-7212
VL - 50
SP - 291
EP - 300
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
IS - 4
ER -