TY - JOUR
T1 - 45,X/46,X,+r(X) Can have a distinct phenotype different from Ullrich- Turner syndrome
AU - Grompe, M.
AU - Rao, N.
AU - Elder, F. F.B.
AU - Caskey, C. T.
AU - Greenberg, F.
PY - 1992
Y1 - 1992
N2 - We present a patient with 45,X/46,X,+r(X) mosaicism and lack of inactivation of either the normal or the ring X in the 46,X,+r(X) cells. The patient has mental retardation, syndactyly, minor facial anomalies, and a congenital heart defect. Although most patients with 45,X/46,X,+r(X) have the Ullrich-Turner syndrome, 2 previously described patients with this karyotype also had a distinct phenotype consisting of severe mental retardation, syndactyly, and abnormal face. The unusually severe phenotype in these patients was thought to be due to lack of X-inactivation of the ring X chromosome. The findings in our patient support this hypothesis.
AB - We present a patient with 45,X/46,X,+r(X) mosaicism and lack of inactivation of either the normal or the ring X in the 46,X,+r(X) cells. The patient has mental retardation, syndactyly, minor facial anomalies, and a congenital heart defect. Although most patients with 45,X/46,X,+r(X) have the Ullrich-Turner syndrome, 2 previously described patients with this karyotype also had a distinct phenotype consisting of severe mental retardation, syndactyly, and abnormal face. The unusually severe phenotype in these patients was thought to be due to lack of X-inactivation of the ring X chromosome. The findings in our patient support this hypothesis.
KW - X-inactivation
KW - mental retardation
KW - microcephaly
KW - ring chromosome
KW - syndactyly
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U2 - 10.1002/ajmg.1320420110
DO - 10.1002/ajmg.1320420110
M3 - Article
C2 - 1339199
AN - SCOPUS:0026584487
SN - 0148-7299
VL - 42
SP - 39
EP - 43
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 1
ER -