非整倍体双胞胎中的无脑无心畸形。

Acephalus-acardia in twins with aneuploidy.

作者信息

Moore C A, Buehler B A, McManus B M, Harmon J P, Mirkin L D, Goldstein D J

机构信息

Department of Medical Genetics, Indiana University School of Medicine, Indianapolis.

出版信息

Am J Med Genet Suppl. 1987;3:139-43. doi: 10.1002/ajmg.1320280516.

DOI:10.1002/ajmg.1320280516

PMID:3130847

Abstract

Since 1963, 11 cases have been reported in which both the acardiac twin and the "normal" co-twin were studied cytogenetically. Aneuploidy or polyploidy was clearly identified in the acardiac twin in 7 cases and in the co-twin in 1 case. We report on 2 additional twin pairs in which aneuploidy was associated with acephalus-acardia. In both cases the "normal" co-twin had a Klinefelter (47,XXY) karyotype. Chromosome analysis in the 2 acardiac twins documented a 47,XXY constitution in one and 94,XXXXYY anomaly in the other. One of the "normal" co-twins also had the VATER association. Given these data we would recommend chromosome analysis of both members of a twin pair when one has acephalus-acardia.

摘要

自1963年以来，已有11例报告对无心双胎及其“正常”双胎进行了细胞遗传学研究。7例无心双胎和1例双胎中的一个明确检测到非整倍体或多倍体。我们报告另外2对双胎，其中非整倍体与无头无心畸形相关。在这两例中，“正常”双胎均具有克兰费尔特综合征（47,XXY）核型。对2例无心双胎的染色体分析显示，其中1例为47,XXY核型，另1例为94,XXXXYY异常。其中1例“正常”双胎还伴有脊柱、肛门、气管、食管及肾脏联合畸形（VATER）。鉴于这些数据，我们建议当双胎中的一个出现无头无心畸形时，对双胎双方都进行染色体分析。