ISSN 0564-3783  



Главная страница
Контакты
Анонсы  
Публикации  
Тематика журнала
Подписка
Вниманию авторов
Редколлегия
Мобильная версия


In English

Export citations
UNIMARC
BibTeX
RIS





Pericentric inversion INV(7)(P11Q21.1): report on two cases and genotype-phenotype correlations

Vorsanova S.G., Iourov I.Y., Demidova , Kolotii A.D., Soloviev I.V., Yurov Y.B.

Оригинальная работа 


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

We report on two unrelated cases of pericentric inversion 46,XY,inv(7)(p11q21.1) associated with distinct pattern of malformation including mental retardation, development delay, ectrodactyly, facial dismorphism, high arched palate. Additionally, one case was found to be characterized by mesodermal dysplasia. Cytogenetic analysis of the families indicated that one case was a paternally inherited inversion whereas another case was a maternally inherited one. Molecular cytogenetic studies have shown paternal inversion to have a breakpoint within centromeric heterochromatin being the cause of alphoid DNA loss. Maternal inversion was also associated with a breakpoint within centromeric heterochromatin as well as inverted euchromatic chromosome region flanked by two disrupted alphoid DNA blocks. Basing on molecular cytogenetic data we hypothesize the differences of clinical manifestations to be produced by a position effect due to localization of breakpoints within variable centromeric heterochromatin and, alternatively, due to differences in the location breakpoints, disrupteding different genes within region 7q21-q22. Our results reconfirm previous linkage analyses suggested 7q21-q22 as a locus of ectrodactily and propose inv (7)(p11q21.1) as a cause of recognizable pattern of malformations or a new chromosomal syndrome.

Цитология и генетика 2006, том 40, № 3, C. 45-48



Vorsanova S.G., Iourov I.Y., Demidova , Kolotii A.D., Soloviev I.V., Yurov Y.B. Pericentric inversion INV(7)(P11Q21.1): report on two cases and genotype-phenotype correlations, Цитология и генетика., 2006, том 40, № 3, C. 45-48.




Copyright© ICBGE 2002-2017 Coded & Designed by Volodymyr Duplij Modified 22.09.17