Acephalus-acardia in twins with aneuploidy.

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

Research output: Contribution to journalReview articlepeer-review

39 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)139-143
Number of pages5
JournalAmerican journal of medical genetics. Supplement
StatePublished - 1987


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