TY - JOUR
T1 - Two unbalanced translocations involving a common 6p25 region in two XY female patients
AU - Batanian, J. R.
AU - Grange, D. K.
AU - Fleming, R.
AU - Gadre, B.
AU - Wetzel, J.
PY - 2001/1/1
Y1 - 2001/1/1
N2 - We report two 46, XY female patients with two different de novo unbalanced translocations, each involving the chromosomal region 6p25. The patient with a 46, XY, der(6)t(X;6)(p21.2;p25) karyotype had a sex reversal phenotype. The patient with a 46, XY, der(13)t(6;13)(p25;q33) karyotype had a male pseudohermaphrodite phenotype. Multi-paint fluorescent in situ hybridization was performed to determine the origin of the derivative material on 6p and 13q. The association of abnormalities of the 6p25 region with either an Xp duplication or a 13q deletion is reported here for the first time.
AB - We report two 46, XY female patients with two different de novo unbalanced translocations, each involving the chromosomal region 6p25. The patient with a 46, XY, der(6)t(X;6)(p21.2;p25) karyotype had a sex reversal phenotype. The patient with a 46, XY, der(13)t(6;13)(p25;q33) karyotype had a male pseudohermaphrodite phenotype. Multi-paint fluorescent in situ hybridization was performed to determine the origin of the derivative material on 6p and 13q. The association of abnormalities of the 6p25 region with either an Xp duplication or a 13q deletion is reported here for the first time.
KW - Chromosomes X, 6, 13
KW - Male pseudohermaphrodite
KW - Multi-paint flourescent in situ hybridization
KW - Sex reversal
KW - Unbalanced translocations
UR - http://www.scopus.com/inward/record.url?scp=0035159769&partnerID=8YFLogxK
U2 - 10.1034/j.1399-0004.2001.590109.x
DO - 10.1034/j.1399-0004.2001.590109.x
M3 - Article
C2 - 11168026
AN - SCOPUS:0035159769
SN - 0009-9163
VL - 59
SP - 52
EP - 57
JO - Clinical Genetics
JF - Clinical Genetics
IS - 1
ER -