Phenotypic heterogeneity and parental origin of extra chromosome 21 in Down syndrome

被引：0
|
作者：
Mamta Muranjan
Tejasvi Chaudhari
Babu Rao Vundinti
机构：
[1] KEM Hospital,Genetic Clinic, Department of Pediatrics
[2] Indian Council of Medical Research,Cytogenetics Division, Institute of Immunohematology
来源：
Indian Pediatrics | 2010年 / 47卷
关键词：
Congenital heart disease; Down syndrome; Fluorescent in-situ hybridization; Genomic imprinting; Trisomy 21;
D O I：
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学科分类号：
摘要：
We compared the frequency of phenotypic features of 40 children with Down syndrome between individuals with a maternally or paternally derived extra chromosome 21, using quantitative FISH for comparing heteromorphisms of the nucleolar organizing region. Parental origin was determined in 90% of families. Hypotonia and craniofacial abnormalities were present in 90% or more individuals, irrespective of parental origin of chromosome 21. Congenital heart defects were more frequent in cases with a maternally derived extra chromosome 21. Imprinted gene(s) may contribute to the development of congenital heart defects in Down syndrome.
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页码：429 / 432
页数：3
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