Petit P, Moerman P, Fryns J P
Center for Human Genetics, University Hospital, Leuven, Belgium.
Genet Couns. 1991;2(3):163-5.
A slightly malformed female fetus with partial trisomy 4q due to a maternal balanced translocation t(1;4)(q44;q22) is reported. This fetus presented some of the typical facial features and internal malformations associated with pure partial trisomy 4q indicating that chromosomal diagnosis is needed to confirm the reality of the malformative syndrome.
报告了一名因母亲平衡易位t(1;4)(q44;q22)导致部分4q三体的轻度畸形女胎。该胎儿呈现出一些与单纯部分4q三体相关的典型面部特征和内部畸形,这表明需要进行染色体诊断以证实畸形综合征的实际情况。