一名患有18号染色体单体嵌合体的女性：一种先前未被描述的染色体异常。
A female with monosomy 18 mosaicism: a previously undescribed chromosome abnormality.
作者信息
Khalifa M M, Yamashiro H, Duncan A M, Hefferon M, Martin A E
机构信息
Department of Paediatrics, Queen's University, Kingston, ON, Canada.
出版信息
Clin Genet. 1996 Jun;49(6):318-20. doi: 10.1111/j.1399-0004.1996.tb03798.x.
Abstract
We report on a patient with monosomy 18 mosaicism, a previously undescribed chromosome abnormality. The phenotype is reminiscent of chromosome 18 ring mosaicism. The reason that the patient survived may be attributed to low level mosaicism for the monosomy.
摘要
我们报告了一例18号染色体单体性嵌合体患者，这是一种此前未被描述的染色体异常。其表型让人联想到18号染色体环状嵌合体。该患者存活下来的原因可能是单体性的低水平嵌合现象。
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