三倍体伴独眼畸形且父母的人类白细胞抗原等位基因相同。
Triploidy with cyclopia and identical HLA alleles in the parents.
作者信息
Lambert J C, Philip P, Charpentier G, Ferrari M, Donzeau M, Ayraud N
出版信息
J Med Genet. 1984 Feb;21(1):63-6. doi: 10.1136/jmg.21.1.63.
Abstract
A 22-week pregnancy was terminated after discovery of serious echographic abnormalities. Fetal examination showed cyclopia, sacral meningocele, and syndactyly. The karyotype was 69,XXX. The parents had identical HLA alleles A1, A2, and Bw21. The mechanism of the triploidy was determined by chromosome marker analysis to be digyny. The association of triploidy with holoprosencephaly and the parents' identical immunological status are discussed.
摘要
在发现严重的超声异常后，终止了22周的妊娠。胎儿检查显示独眼畸形、骶部脊膜膨出和并指畸形。核型为69,XXX。父母具有相同的HLA等位基因A1、A2和Bw21。通过染色体标记分析确定三倍体的机制为双雌受精。讨论了三倍体与前脑无裂畸形的关联以及父母相同的免疫状态。
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