Congenital Heart Defects and Twinning

Burn, John; Corney, G.

doi:10.1017/s0001566000007510

Cited by 65 publications

(30 citation statements)

References 15 publications

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“…It may be postulated that, in this population, a premature infant with a patent ductus is equally likely to be classified as having unspecified congenital heart disease as having the specific anomaly itself. The finding of a moderate excess in twins is consistent with previous reports, even though these vary widely in method of confirming diagnosis [5,13].…”

Section: Discussionsupporting

confidence: 91%

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Congenital Anomalies in Twins in Northern Ireland. III: Anomalies of the Cardiovascular System, 1974-1978

Little

Nevin²

1989

Acta genet. med. gemellol.: twin res.

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Rates of congenital anomalies of the cardiovascular system were compared between twins and singletons in a population-based study in Northern Ireland during the period 1974-1978. Multiple sources of ascertainment were used. As in previous studies, the rate of anomalies of the cardiovascular system in twins (91.0/10,000) was higher than the rate in singletons (66.4/10,000). The excess was confined to twins from pairs of like sex and, in the main, anomalies of the circulatory system other than of the heart itself were involved. Problems in the interpretation of this excess are discussed. No twins were concordant for congenital cardiovascular anomalies of any type.

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Section: Discussionsupporting

confidence: 91%

“…However, the results of prevalence surveys have not been consistent. An excess in pairs of like sex [8,12,17], and also in MZ pairs [4,6,11], has been found by some but not by others [5,24].…”

Section: Discussionmentioning

confidence: 99%

Congenital Anomalies in Twins in Northern Ireland. III: Anomalies of the Cardiovascular System, 1974-1978

Little

Nevin²

1989

Acta genet. med. gemellol.: twin res.

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“…In general, monozygotic twins are concordant for structural anomalies in only 5-20% of cases [Schinzel et al, 1979]. In particular, cardiac defects, which are more common in monozygotic twins, usually affect only one of the pair [Burn and Corney, 1984]. Phenotypic discordance has been described in monozygotic twins with trisomies 13 [Naor et al, 1987] and 18 [Schlessel et al, 1990], Fryns syndrome [Vargas et al, 2000], and 22q11.2 deletion [Goodship et al, 1995;Yamagishi et al, 1998].…”

Section: Discussionmentioning

confidence: 99%

Monozygotic twins with a severe form of Alagille syndrome and phenotypic discordance

et al. 2002

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Alagille syndrome is an autosomal dominant disorder affecting multiple organ systems, predominantly the liver, heart, skeleton, eye, face, and kidney. The phenotype in Alagille syndrome is highly variable both within and between families. We report monozygotic twins with Alagille syndrome concordant for a mutation in Jagged1 but discordant for clinical phenotype. The twins' monozygosity was confirmed by molecular testing. A de novo splice site mutation was identified in exon 6 (1329 + 2T → G) in both children. Both twins display a severe form of Alagille syndrome; however, one twin has a severe pulmonary atresia with mild liver involvement, while the other has tetralogy of Fallot and severe hepatic involvement, which has required liver transplantation. Potential mechanisms for phenotypic variability among monozygotic twins are discussed. This is the first reported case of discordance in phenotype in monozygotic twins with Alagille syndrome. This case implies that genotypic variations alone do not explain the clinical variability seen in Alagille syndrome and supports the contributory role of nongenetic factors in phenotype determination. © 2002 Wiley‐Liss, Inc.

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“…Possible mechanisms for the discordance of monozygotic, particularly monochorionic, twins are genetic mosaicism, differences in cell number allocation in the early zygote, disturbance of laterality, differences in placental vascular supply, and somatic changes [Burn and Corney, 1984;Hall, 1996a,b;Machin et al, 1995Machin et al, , 1996Machin, 1996]. Dichorionic twinning with late placental fusion in our twins could explain the minor difference of 240 g (8%) in birth weight, which may, however, account for the more severe degree of tetralogy of Fallot in the lighter twin.…”

Section: Discussionmentioning

confidence: 99%

Monozygotic twins concordant for Cayler syndrome

et al. 1998

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Deletions within chromosome band 22q11.2 are associated with a variety of conditions, although a simple genotype-phenotype correlation has not been established so far. Environmental factors, chance events, or a second hit theory were supported by two observations of monozygotic twins with 22q11.2 deletions and discordant phenotypes [Goodship et al., J Med Genet 1995;32:746-748; Fryer, J Med Genet 1996;33:173]. We present monozygotic twins concordant for 22q11.2 deletion and Cayler syndrome, favoring the view that there exists a predominant genetic determination of the del 22q11.2 phenotype. As these twins are diamniotic and dichorionic, they may offer a more reliable insight in genetic phenotype determination than the other published, probably monochorionic, twins who may have a discordant malformation by twinning itself.

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Congenital Heart Defects and Twinning

Cited by 65 publications

References 15 publications

Congenital Anomalies in Twins in Northern Ireland. III: Anomalies of the Cardiovascular System, 1974-1978

Congenital Anomalies in Twins in Northern Ireland. III: Anomalies of the Cardiovascular System, 1974-1978

Monozygotic twins with a severe form of Alagille syndrome and phenotypic discordance

Monozygotic twins concordant for Cayler syndrome

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