نتایج جستجو برای: robertsonian translocation

تعداد نتایج: 47030  

Journal: :Human reproduction 2012
M Vozdova K Kasikova E Oracova P Prinosilova R Rybar V Horinova R Gaillyova J Rubes

BACKGROUND The swim-up and hyaluronan (HA)-binding methods are used for the selection of good quality spermatozoa to improve pregnancy rates and embryo quality and to reduce the number of miscarriages after IVF. We evaluated whether the processing of sperm by these methods reduces the frequency of spermatozoa with abnormal karyotypes and altered chromatin quality in balanced translocation carri...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1979
J Spira F Wiener S Ohno G Klein

Trypsin-Giemsa banding studies on T cell leukemias induced in Robertsonian translocation mice by dimethylbenz[a]anthracene and Moloney leukemia virus show a trisomy of chromosome 15 even in cases in which chromosome 15 has undergone centromeric fusion with chromosomes 1, 5, or 6. These results suggest that the duplication of gene(s) located on chromosome 15 is of critical importance for murine ...

Journal: :Journal of medical genetics 1991
I K Temple A Cockwell T Hassold D Pettay P Jacobs

We report the first case of maternal uniparental disomy of chromosome 14 in humans. The male proband inherited a balanced 13;14 Robertsonian translocation from his mother. Molecular studies showed that neither chromosome 14 was of paternal origin. The proband is of above average intelligence, but he has hydrocephalus, a bifid uvula, premature puberty, short stature, and small testes. It is not ...

Journal: :American journal of medical genetics. Part A 2008
Craig Horbinski Erika M Carter Patricia L Heard Malini Sathanoori Jie Hu Jerry Vockley Shelly Gunn Daniel E Hale Urvashi Surti Jannine D Cody

Recurrent constitutional non-Robertsonian translocations are very rare. We present the third instance of cryptic, unbalanced translocation between 4q and 18q. This individual had an apparently normal karyotype; however, after subtelomere fluorescence in situ hybridization (FISH), he was found to have a cryptic unbalanced translocation between 4q and 18q [ish der(18)t(4;18)(q35;q23)(4qtel+,18qte...

Journal: :Journal of medical genetics 1984
J M Sánchez A M Pantano

A girl with a high and microbrachycephalic cranium (but without craniosynostosis), antimongoloid palpebral fissures, external strabismus, microsomy, a peculiarly shaped nose, soft tissue syndactyly in the right hand and both feet, and psychomotor retardation was found to have a deletion of chromosome 2 (q35----qter) and a Robertsonian translocation 13;14 inherited from her healthy father. The g...

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