Lazjuk G, Zolotukhina T, Kirillova I, Lurie I, Novikova I, Abasheva G
Zentralbl Gynakol. 1987;109(2):126-9.
Prenatal diagnosis, performed in a woman with reciprocal translocation (9:18), disclosed partial monosomy 18q in a fetus. Morphologic studies of this fetus revealed dysplastic face and ears, a high palate, hypomotility of joints, an accessory spleen and anomalous dermatoglyphics. Biochemical examination detected a decrease of most amino acids, which is typical for many chromosomal syndromes.
对一名患有相互易位（9:18）的女性进行产前诊断，结果显示其胎儿存在18q部分单体性。对该胎儿的形态学研究发现面部和耳部发育异常、高腭弓、关节活动度降低、副脾以及皮纹异常。生化检查检测到大多数氨基酸减少，这在许多染色体综合征中都很典型。
