3号染色体短臂部分缺失：3p25 - 3p末端综合征的进一步界定
Partial deletion of the short arm of chromosome 3: further delineation of the 3p25-3pter syndrome.
作者信息
Reifen R M, Gale R, Kerem E, Armon Y, Brand A, Dagan J, Kohn G
出版信息
Clin Genet. 1986 Aug;30(2):127-30. doi: 10.1111/j.1399-0004.1986.tb00581.x.
Abstract
A male newborn with partial deletion of the short arm of chromosome 3 is described. The patient shares most of the features with the previously reported cases. In addition, cardiac, skeletal and gastrointestinal anomalies not previously reported are described. These characteristics may help in further delineation of the syndrome.
摘要
本文描述了一名患有3号染色体短臂部分缺失的男性新生儿。该患者与先前报道的病例具有大多数共同特征。此外，还描述了一些先前未报道过的心脏、骨骼和胃肠道异常情况。这些特征可能有助于进一步明确该综合征。
Zotero 插件