Molecular cytogenetics, RFLP analysis and clinical characterization of a de novo trisomy 10p case

被引：9
|
作者：
Granata, P
Mazzola, D
Righi, R
Minelli, E
Salvatoni, A
Baroli, P
Maggi, F
Casalone, R
机构：
[1] Osped Circolo Varese, Lab Citogenet, I-21100 Varese, Italy
[2] Univ Insubria, Pediat Clin, I-21100 Varese, Italy
[3] Lab TOMA, Sez Citogenet & Genet Mol, Busto Arsizio, VA, Italy
来源：
ANNALES DE GENETIQUE | 2000年 / 43卷 / 01期
关键词：
chromosome; 10p trisomy; FISH; phenotype;
D O I：
10.1016/S0003-3995(00)00014-9
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
A new case of a de novo trisomy 10cen --> 10pter is described. The karyotype was exactly defined by high resolution banding and FISH analysis. the chromosome aberration was of maternal meiotic origin as demonstrated by RFLP analysis. Clinical data are reported and correlated with other trisomy 10p cases from the literature. A critical review or the literature was made to define the phenotype of trisomy 10p syndrome. (C) 2000 Editions scientifiques et medicales Elsevier SAS.
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收藏
页码：45 / 50
页数：6
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