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先天性心脏病的染色体研究_殷胜利.pdf
# 520 # 2001 11 18 6 Chin J Ex Surg, November 2001, Vol 18, No. 6
##
殷胜利 张希 孙培吾 王治平 罗红鹤
=
19 , 20 12
2 5 58 5 ml
G 58 19
, 32. 8% , , 22 9 ; 21 3 , 46, XX 2
, 4 2 , 3 22q11
;
= ; ; , G
Chromosome inspection of congenital heart diseases YIN Shengli , ZH AN G X i, S UN Peiw u, et al .
Dep art ment of Cardia Surgery , First Af f iliated H osp ital, S un Yat-sen University of M edi al S i-
en es , Guangz hou 510080, China
= Abstract Obj ecive To reveal internal relat ionshi between congenital heart diseases and chro-
mosome aberration on chromosome ins ection of atients w ith congenital heart diseases com licated w ith
ot her deformities.Methods Fift y-eight congenital heart disease atients, containing 19 cases of com lex
congenital heart disease, 20 cases of ASD and VSD, 12 cases of tetralogy of Fallot, 2 cases of arachn-
odactyly and 5 cases of VSD combined w ith extra-cardiac malformations, were studied. Five ml eri heral
blood from each atient was takne out and cultured. Giemsa band on chromosomes was stained and ana-
lyzed under high times microsco y. Results Among the 58 cases of congenital heart disease, 19 showed
different chromosome deformities, accounting for 32. 8% . T hereinto, 9 atients show ed t iny deletion of
22q11, 3 trisomy of 21 chromosome, 2 male atients 46, XX, 2 deletion of long arm on the forth chromo-
some, and the left 3 other deformities on chromosomes. Conclusion Tiny deletion of 22q11 w as t he most
common deformity of chromosome for the at ients w ith congenital heart disease. The ositive rate of
chromosome deformity in the atients with com lex congenital heart disease was really higher than in
t hose w ith common
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