Details

Autor(en) / Beteiligte

• Moore, Cynthia A.
• Buehler, Bruce A.
• McManus, Bruce M.
• Harmon, Joseph P.
• Mirkin, L. David
• Goldstein, David J.
• Opitz, John M.
• Bernstein, Jay

Titel

Acephalus-acardia in twins with aneuploidy

Ist Teil von

• American journal of medical genetics, 1987, Vol.28 (S3), p.139-143

Ort / Verlag

New York: Wiley Subscription Services, Inc., A Wiley Company

Erscheinungsjahr

1987

Link zum Volltext

Quelle

Alma/SFX Local Collection

Beschreibungen/Notizen

• 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.