Results 161 to 170 of about 3,485 (190)

Pregnancy outcome in carriers of Robertsonian translocations

American Journal of Medical Genetics Part A, 2011
AbstractRobertsonian translocation carriers are at increased risk for infertility, spontaneous abortions, or chromosomally unbalanced offspring. Reproductive counseling of these carriers is challenging.We performed a retrospective analysis of all prenatal diagnoses from Robertsonian translocation carriers during the time period January 1, 1992 through ...
Keymolen, Kathelijn, Kim, Van Berkel, Vorsselmans, Anniek, Staessen, Catherine, Kim, Van Berkel   +4 more
openaire   +3 more sources

Human chromosome variation with two Robertsonian translocations

Human Genetics, 1985
A woman was found to have 42 autosomes due to engagement of both chromosomes 14 in Robertsonian rearrangements, one with a chromosome 21 and the other with a chromosome 22: t(14q21q) and t(14q22q). The two translocations appear monocentric and by silver staining have no rRNA activity.
R, Morgan, H, Bixenman, F, Hecht
openaire   +2 more sources

Acquired Robertsonian translocations in two leukemia patients

Cancer Genetics and Cytogenetics, 2001
Robertsonian translocations were observed in two leukemia patients. The first case was a patient with chronic lymphocytic leukemia, who was found to have a rare Robertsonian translocation der(14;15)(q10;q10). The second case, a patient with acute myeloid leukemia, had multiple Robertsonian translocations: der(15)t(13;15)(q11.1;p11.1), der(14;22)(q10 ...
D, Chinnappan, A, Philip, X, Wu, A, Pan, H E, Wyandt   +4 more
openaire   +2 more sources

Prenatal UPD testing survey in Robertsonian translocations

Prenatal Diagnosis, 2000
A systematic search was made for uniparental disomy (UPD) in familial or de novo balanced Robertsonian translocations, identified by prenatal cytogenetic investigations. Parent-of-origin studies were performed using molecular markers for both chromosomes involved in the translocation. No UPD cases were identified out of 23 analysed cases.
F, Gualandi, A, Sensi, C, Trabanelli, F, Falciano, A, Bonfatti, E, Calzolari   +5 more
openaire   +2 more sources

Robertsonian translocations in Mus musculus from Sicily

Experientia, 1977
The karyotypes of 6 mice from different places in Sicily have been determined. 3 of them had abnormal chromosome numbers of 2n = 26, 2n = 27 and 2n = 29, caused by Robersonian translocations of one acrocentric chromosome to another resulting in metacentric chromosomes.
E v, Lehmann, A, Radbruch
openaire   +2 more sources

Meiotic segregation of a 21; 22 Robertsonian translocation

Human Reproduction, 1992
In-vitro fertilization of hamster oocytes with human spermatozoa has been used to study heterozygotes for structural chromosome abnormalities. To date only four men heterozygous for Robertsonian translocations have been examined. In this study, 150 sperm chromosome complements from a 21;22 translocation were investigated.
R M, Syme, R H, Martin
openaire   +2 more sources

Robertsonian translocations: Clues to imprinting

American Journal of Medical Genetics, 1993
AbstractRobertsonian translocations, occurring with a frequency of about 1 in 10,000 livebirths, may be an important cause of uniparental disomy as demonstrated for 13/15, 13/14, 14/14, and 22/22 translocations. Dysmorphogenesis and/or mental retardation provide clinical clues for uniparental disomy in apparently balanced offspring of translocation ...
openaire   +1 more source

Uniparental Disomy and Robertsonian Translocations

Molecular Diagnosis, 2003
Uniparental disomy (UPD) is defined by the inheritance of both homologous chromosomes from only one parent, resulting in an imbalance of the expression of imprinted genes. With the recent identification of several diseases associated with UPD, the diagnostic significance of this molecular finding is a focus of interest. Acrocentric chromosomes involved
Thomas, Eggermann, Klaus, Zerres
openaire   +2 more sources

A New Case of Robertsonian Translocation in Cattle

Journal of Heredity, 1988
A new Robertsonian translocation was found in several animals of the Blonde d'Aquitaine breed. The fused chromosome analyzed by G- and R-banding results from the fusion of chromosomes 21 and 27. C-banding suggests that the fused chromosome is dicentric.
Berland, H.M., Sharma, A., Cribiu, E.P., Darré, Roland, Boscher, J., Popescu, C.P.   +5 more
openaire   +3 more sources

A, not so robertsonian, translocation!

Annales de Biologie Clinique, 2021
Julie, Amiot, Valérie, Layet, Alain, Talbot, Mathieu, Castelain, Thierry, Frebourg, Pascal, Chambon, Nathalie, Le Meur, Géraldine, Joly Helas, Kévin, Cassinari   +8 more
openaire   +2 more sources