dup(3)(p25 至 pter)综合征：一例全前脑畸形病例。

The dup(3)(p25 leads to pter) syndrome: a case with holoprosencephaly.

作者信息

Martin N J, Steinberg B G

出版信息

Am J Med Genet. 1983 Apr;14(4):767-72. doi: 10.1002/ajmg.1320140418.

DOI:10.1002/ajmg.1320140418

Abstract

We report a patient with dup(3p) syndrome with holoprosencephaly. This infant is compared with 17 others reported previously with banding studies. In 72% of cases the duplication derived from a mother with a balanced translocation; 78% of affected individuals are males. The most common anomalies are characteristic facial changes, congenital heart defects, and hypoplasia of male genitalia. Holoprosencephaly has not been reported before in the dup(3p) syndrome.

摘要

我们报告了一名患有全前脑畸形的 dup(3p) 综合征患者。将该婴儿与之前通过染色体显带研究报告的其他 17 例患者进行了比较。在 72% 的病例中，重复片段源自患有平衡易位的母亲；78% 的受影响个体为男性。最常见的异常是特征性面部改变、先天性心脏缺陷和男性生殖器发育不全。全前脑畸形此前在 dup(3p) 综合征中尚未有过报道。