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Description of the case of deletion of the short arm of the chromosome 21 (21p-)(christchurch chromosome) discovered prenatally: clinical and cytogenetical data
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Results of cytogenetic research of placental villi and amniotic fluid cells culture of the 22-weeks-old fetus with multiple congenital malformations (MCM) are presented. The absence of the short arm in one of the homologue of the chromosome 21 was revealed. Cytogenetic analysis of the fetus fatherís blood lymphocytes determined the similar chromosome. Futher research of the fatherís karyotype made by FISH-method using specific DNA samples had discovered the absence of subtelomeric parts in the short arm of the chromosome 21 that might be considered as a deletion. It was suggested that the effect of position and interaction of genes could play a key role in appearing of MCM in the fetus in the case when the 21pĖ chromosome was transferred to it from the healthy parents.
Tsitologiya i Genetika 2004, vol. 38, no. 1, pp. 26-30
|Coded & Designed by Volodymyr Duplij||Modified 28.05.23|