Results 241 to 250 of about 103,740 (298)

Balanced translocations in mental retardation

Human Genetics, 2009
Over the past few decades, the knowledge on genetic defects causing mental retardation has dramatically increased. In this review, we discuss the importance of balanced chromosomal translocations in the identification of genes responsible for mental retardation.
Vandeweyer, Geert, Kooy, Frank
openaire   +3 more sources

Balanced autosomal translocations and ovarian dysgenesis

Human Genetics, 1994
We report two unrelated women with gonadal dysgenesis, and a (6;15)(p21.3;q15) and a (8;9)(p11.2;q12) balanced translocation, respectively. The patients were of normal stature and showed no phenotypic abnormality or malformation other than ovarian failure.
TUPLER, Rossella, L. BARBIERATO, D. LARIZZA, P. SAMPAOLO, F. PIOVELLA, P. MARASCHIO   +5 more
openaire   +3 more sources

Phenotypic effects of inherited balanced translocation

American Journal of Medical Genetics, 1982
AbstractWe report two cases of inherited balanced translocation with severe CNS abnormalities and a number of other physical findings. In both cases a multiple congenital anomalies/mental retardation (MCA/MR) syndrome was supected However, in one case, parturitional and neonatal complications probably resulted in brain damage; in the other, prenatal ...
Zhao Ying, Cheng Zaiyu, Liu Chunyun, Wilson Hwei‐yuen Lo, John M. Opitz, John M. Opitz   +5 more
openaire   +2 more sources

Constitutional Balanced Translocations in Alveolar Rhabdomyosarcoma

Cancer Genetics and Cytogenetics, 1998
Chromosomal analysis of tumor tissue from two children with alveolar rhabdomyosarcoma revealed t(1;5)(q32;q31) and t(1;22)(q21;q11.2) in all metaphases examined, respectively. Peripheral blood lymphocytes carried the same cytogenetic abnormality as that of the tumor cells in both patients.
S, Savaşan, A, Lorenzana, J A, Williams, A N, Mohamed, Y, Ravindranath, M, Zielenska, M, Hamre, J E, Haas, F, Rector, H, Sawaf, E, Abella   +10 more
openaire   +2 more sources

Balanced reciprocal translocation mosaicism: How frequent?

American Journal of Medical Genetics, 1995
AbstractWe describe 2 cases of balanced reciprocal translocation (BRT) mosaicism. The frequency of this aberration in the population referred to our laboratory was determined and compared to those frequencies reported in the literature by other clinical cytogenetics laboratories.
K E, Opheim, A, Brittingham, D, Chapman, T H, Norwood   +3 more
openaire   +2 more sources

Two cases of C-group balanced translocations

Humangenetik, 1975
The present study describes 2 cases of a balanced reciprocal translocation in the C-group of autosomes. Familial translocation 46,XX,t(6;7) was found both in a woman cytogenetically examined because of a developmental anomaly of the internal genitals (uterus bicornis subseptus) and in her healthy mother.
K, Michalová, J, Málková, R, Chrz
openaire   +2 more sources

Semen Analysis in Subfertile Balanced-Translocation Carriers

Fertility and Sterility, 1980
The spermograms of 19 subfertile translocation carriers were analyzed. Most of these men had moderate oligo-/astheno-/teratospermia. The results were widely spread, and some reached normal values, suggesting that autosomal rearrangement of the karyotype does not lead to severe oligospermia or azoospermia as do sex chromosome aberrations.
D, Marmor, J L, Taillemite, J, Van den Akker, M F, Portnoi, N, le Porrier, N, Joye, D, Delafontaine, C, Roux   +7 more
openaire   +2 more sources

Azoospermic Male with a Balanced Y-Autosome Translocation

Urologia Internationalis, 1989
Structural chromosomal aberrations, such as translocations or inversions, may cause spermatogenic failure. We report a rare chromosomal anomaly 46,X,t(Y;3)(q12;p21) in an azoospermic male with normal phenotype. Twenty-two cases of a balanced Y-autosome translocation have been reported in the literature and the majority of them have been detected among ...
T, Matsuda, K, Hayashi, M, Nonomura, S, Yamamoto, O, Yoshida   +4 more
openaire   +2 more sources

Balanced translocation in fetal wastage.

Obstetrics and gynecology, 1975
A balanced reciprocal translocation involving the long arms of a No. 4 and a No. 11 chromosome, t(4;11) (q25;q13), was found in a mother who had one spontaneous first trimester abortion and 2 abnormal infants, as well as in her 2 phenotypically normal children.
H J, Kim, B G, Kousseff, L Y, Hsu, K, Hirschhorn   +3 more
openaire   +1 more source

Three cases of mosaicism for balanced reciprocal translocations

American Journal of Medical Genetics, 1998
Mosaicism for a balanced reciprocal translocation (BRTM) is rare. As far as we know only 26 cases of BRTM, demonstrated in lymphocyte cultures, have been described, five of which had an abnormal phenotype. Prenatally three confirmed cases with a normal phenotypic outcome have been described.
Leegte, B, Sikkema-Raddatz, B, Hordijk, R, Bouman, K, van Essen, T, Castedo, S, de Jong, B   +6 more
openaire   +3 more sources