核型为45，XX，-21/46，XX，21q-的一名患有I型G缺失综合征症状的婴儿。
Karyotype 45,XX,-21/46,XX,21q-in an infant with symptoms of G-deletion syndrome I.
作者信息
Mikkelsen M, Vestermark S
出版信息
J Med Genet. 1974 Dec;11(4):389-93. doi: 10.1136/jmg.11.4.389.
Abstract
An infant with antimongoloid eye slants, achalasia, broad nose, one low-set large and one rudimentary ear lobe, and rudimentary nails with a retarded psychomotor development showed an 45,XX,−21/46,XX,21q− karyotype. By fluorescence and Giemsa staining it was shown that the missing or deleted chromosome 21 was of paternal origin.
摘要
一名患有内眦赘皮性斜眼、贲门失弛缓症、宽鼻、一侧耳低位且大而另一侧耳垂发育不全以及指甲发育不全且精神运动发育迟缓的婴儿，其核型为45,XX,−21/46,XX,21q−。通过荧光和吉姆萨染色显示，缺失或缺失的21号染色体来自父方。
Zotero 插件