Isochromosome 22 in trisomy 22 mosaic with five cell lines.
Isochromosome 22 in trisomy 22 mosaic with five cell lines.
复制标题
具有 5 个细胞系的 22 三体镶嵌体中的同染色体 22。
DOI：
10.1002/ajmg.a.20365
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发表时间：
2004
期刊：
影响因子：
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通讯作者：
Hassan,Rosetta
中科院分区：
文献类型：
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作者：
Guzé,Carol;Qin,Naigeng;Kelly,JoAnn;Yang,Xiaojing;Bruni,Roberta;Baker,Debra;Hassan,Rosetta
This report describes a full‐term male infant with trisomy 22 due to an isochromosome 22. Prenatal diagnosis with amniotic fluid showed two cell lines, one with an isochromosome 22 and the other with a deleted isochromosome 22. Subsequent cytogenetic analyses of cord blood, umbilical cord tissue, and placenta revealed additional cell lines. A normal cell line was found in umbilical cord tissue and two of three placental sites. The newborn had numerous dysmorphic features and died within 48 hrs of birth. © 2003 Wiley‐Liss, Inc.
