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ABSTRACT: We report on a male patient and members of his family with additional material in chromosome 3. This derivative chromosome 3 was transmitted from his mother who had a complex rearrangement between chromosomes 2, 3, and 7. It was possible to delineate her chromosomal rearrangement by microdissection and reverse painting and to exclude these aberrations from being responsible for neonatal deaths and several abortions in this family. Two members of this family suffer from ectrodactyly or split hand/foot malformations (SHFM) of the feet which possibly correlates with the derivative chromosome 7 containing a breakpoint in the SHFM1 critical region involving several homeobox genes.
Journal of medical genetics. 07/2000; 37(6):442-5.
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ABSTRACT: Microdissection in combination with reverse painting fluorescence in-situ hybridization (FISH) is a very effective method to identify breakpoints and rearrangements of derived chromosomes and reveal the chromosomal origin of marker chromosomes. We describe an innovation that allows a convenient, fast and safe isolation of microdissected fragments as currently available protocols. The microdissected chromosomes are harvested in a collection drop located in a movable micropipette adjusted to a second micromanipulator under microscopic observation. We used this technique to analyze several cytogenetic aberrations. In order to evaluate the efficiency of our microdissection procedure, we compared the results obtained with microdissection probes made from only one fragment with those obtained with more than six microdissected fragments. In all cases, the single-fragment microdissections were sufficient to provide probes.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology. 02/1999; 7(5):355-62.
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ABSTRACT: It is reported on the results of 250 treatment cycles in which we carried out intracytoplasmic injections (ICSI) with frozen and thawed testicular spermatozoa (cryo-TESE). Up to July 1997 we treated 127 patients, 225 embryo transfers were performed (90%), and an average of 2.3 preimplantation embryos were transferred. This resulted in 53 clinical pregnancies, six patients aborted (11.3%). The pregnancy rate was 21.2% per treatment cycle, 23.5% per embryo transfer, and 41.7% per patient. This so called cumulative pregnancy rate is still about to rise, because 49 out of the 72 non-pregnant patients are still in our ICSI-program. Twenty-two children are born, 2 twins and 1 triplet. All children are healthy and without any major malformations. We conclude from these results that using cryopreserved testicular sperm for ICSI is an effective and successful approach for the treatment of severe testicular insufficiency. In comparison to the use of native testicular sperm with the necessity of repetitive testicular biopsies, cryopreservation is advantageous in many concerns (e.g. logistic, organisatoric and financial) and is therefore recommended for clinical routine.
Zentralblatt für Gynäkologie. 02/1998; 120(8):386-90.
