
ROLE OF CHROMOSOMES IN EMBRYO DEVELOPMENT Geraedts JPM* *Corresponding Author: Professor Dr. Joep P.M. Geraedts, Department of Genetics and Cell Biology, University of Maastricht, P.O. Box 1475, 6201 BL Maastricht, The Netherlands; Tel.: +31-43-3875840; Fax: +31-43-3877877; E-mail: joep.geraedts@gen.unimaas.nl page: 3
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Abstract
Cytogenetic studies can be carried out on metaphase chromosomes or on interphase cells. Besides the classical techniques, many new methods, based on molecular approaches, are now available. About one-third of oocytes are cytogenetically abnormal. This percentage increases with maternal age. Most abnormalities are caused by non disjunction, but premature centromere division at meiosis-I (M-I) has been suggested as an alternative mechanism.. In sperm cells about 7% show abnormalities. This percentage is higher in infertile males. About a third of morphologically normal embryos are chromosomally abnormal at the cleavage stages. In human blastocysts chromosomal mosaicism arises. During preimplantation development, the percentage of embryos showing chromosomal mosaicism increases to almost 100% at the blastocyst stage. The most common abnormality in miscarriage is trisomy. Trisomy 16 accounts for 30% of all trisomies. Trisomy for all chromosomes except chromosome 1 has been observed in spontaneous abortions. Autosomal monosomies are practically unknown in human miscarriages, but monosomy X is a frequent finding. The abnormality most frequently resulting from abnormal fertilization is triploidy.
Key words: Chromosome abnormalities, Preimplantation embryo development, Spontaneous abortion, Non disjunction.
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