Acephalus-acardia in twins with aneuploidy.

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

Acephalus-acardia in twins with aneuploidy.

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

Genetic Medicine

Research output: Contribution to journal › Review article › peer-review

40 Scopus citations

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.

Original language	English (US)
Pages (from-to)	139-143
Number of pages	5
Journal	American journal of medical genetics. Supplement
Volume	3
State	Published - 1987

Cite this

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title = "Acephalus-acardia in twins with aneuploidy.",

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.",

author = "Moore, {C. A.} and Buehler, {B. A.} and McManus, {B. M.} and Harmon, {J. P.} and Mirkin, {L. D.} and Goldstein, {D. J.}",

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T1 - Acephalus-acardia in twins with aneuploidy.

AU - Moore, C. A.

AU - Buehler, B. A.

AU - McManus, B. M.

AU - Harmon, J. P.

AU - Mirkin, L. D.

AU - Goldstein, D. J.

PY - 1987

Y1 - 1987

N2 - 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.

AB - 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.

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JO - American journal of medical genetics. Supplement

JF - American journal of medical genetics. Supplement

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Acephalus-acardia in twins with aneuploidy.

Abstract

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