Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies.
Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies.
复制标题
20 号染色体的嵌合父本单亲（异）二体性与多种异常相关。
DOI：
10.1002/ajmg.a.20430
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发表时间：
2004
期刊：
影响因子：
--
通讯作者：
Spinner,NancyB
中科院分区：
文献类型：
--
作者：
Venditti,CharlesP;Hunt,Piper;Donnenfeld,Alan;Zackai,Elaine;Spinner,NancyB
Uniparental disomy for a number of human chromosomes is associated with clinical abnormalities. We report a child with a complex chromosomal rearrangement involving chromosome 20 (45,XY,psu dic (20;20)(p13;p13)) and paternal uniparental isodisomy for chromosome 20 in peripheral blood and bone marrow. This patient had multiple congenital abnormalities including microtia/anotia, micrencephaly, congenital heart disease, neuronal subependymal heterotopias, and colonic agangliosis. Molecular studies on DNA from peripheral blood demonstrated paternal uniparental inheritance of chromosome 20. However, fibroblasts demonstrated a mosaic karyotype, with one cell line having 45 chromosomes, including the pseudodicentric chromosome 20 (75% of cells), and a second cell line having 46 chromosomes, including the pseudodicentric chromosome 20, and a normal chromosome 20 (trisomy 20) (25% of cells). FISH experiments using a sub‐telomeric probe that maps ∼120 kb from the 20p telomere, showed that both copies of these sequences were present on the rearranged chromosome, consistent with deletion of a very small interval. This leads us to suggest that in addition to trisomy 20 mosaicism, paternal uniparental disomy for chromosome 20 could contribute to his clinical phenotype. © 2003 Wiley‐Liss, Inc.
