ISSN 0564-3783  



Main page
Contacts
Preview papers  
Themes
Contents  
Themes
Subscription
Information to authors
Editorial board
Mobile version


In Russian

Export citations
UNIMARC
BibTeX
RIS





Description of the case of deletion of the short arm of the chromosome 21 (21p-)(christchurch chromosome) discovered prenatally: clinical and cytogenetical data

Tavokina L.V., Vorsanova S.G., Zukin V.D., Sopko N.I., Zinchenko V.M., Veselovskiy V.V., Bychkova A.M., Nikitchina T.V., Yurov Yu.B.

 


[Free Full Text (pdf)]Article Free Full Text (pdf)  

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 father’s blood lymphocytes determined the similar chromosome. Futher research of the father’s 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 21p– chromosome was transferred to it from the healthy parents.

Tsitologiya i Genetika 2004, vol. 38, no. 1, pp. 26-30



Tavokina L.V., Vorsanova S.G., Zukin V.D., Sopko N.I., Zinchenko V.M., Veselovskiy V.V., Bychkova A.M., Nikitchina T.V., Yurov Yu.B. Description of the case of deletion of the short arm of the chromosome 21 (21p-)(christchurch chromosome) discovered prenatally: clinical and cytogenetical data, Tsitol Genet., 2004, vol. 38, no. 1, pp. 26-30.




Copyright© ICBGE 2002-2018 Coded & Designed by Volodymyr Duplij Modified 23.01.18