10号染色体长臂的末端缺失

Curtis H, Howell R T, Cope C

J Med Genet. 1986 Oct;23(5):478-80. doi: 10.1136/jmg.23.5.478.

A de novo chromosome abnormality interpreted as a terminal deletion of chromosome 10, del(10)(pter----q25.2:), was ascertained in a newborn female with multiple malformations. The clinical features observed at birth and on follow up at 10 months of age are described and compared with previously reported cases.

在一名患有多种畸形的新生女婴中，发现了一种新发的染色体异常，被解释为10号染色体末端缺失，即del(10)(pter----q25.2:)。本文描述了该女婴出生时及10个月随访时观察到的临床特征，并与先前报道的病例进行了比较。