Supravalvular aortic stenosis in a twin.

Neilson, Graeme; Hossack, Kenneth F.

doi:10.1136/hrt.40.10.1190

Cited by 9 publications

(3 citation statements)

References 12 publications

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“…In the literature, there are several reports of monozygotic twins (in some cases with varying clinical symptoms) concordant for the syndrome, and four pairs of dizygotic twins discordant for WBS are found [Page et al, 1965;Wiltse et al, 1966;Crichton and Morgan, 1967;Neilson and Hossack, 1978;Oorthuys, 1984;Murphy et al, 1990]. From our patient material on 291 families, we have reported on a pair of monozygotic female twins with WBS [Pankau et al, 1993a].…”

Section: Discussionmentioning

confidence: 57%

Familial Williams-Beuren syndrome showing varying clinical expression

et al. 2001

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Williams-Beuren syndrome (WBS) is a contiguous gene syndrome that occurs mainly sporadically, with an estimated frequency of 1:13,700 to 1:25,000 [Grimm and Wesselhoeft, 1980; Martin et al., 1984; Udwin, 1990]. The cases of monozygotic twins concordant for WBS and dizygotic twins discordant for the syndrome have been reported. In addition, a few familial cases have been described since 1993. The clinical diagnosis has been supported by molecular genetic findings in only two patients, however. We herein report on two families in which the WBS was inherited in girls from their mothers. All four patients showed the typical hemizygous deletion at 7q11.23 [46,XX, ish,del(7)(q11.23q11.23) (ELN/LIMK1/D7S-613x1, D7S486/D7S522x2)], but the clinical picture was strikingly variable within and between families.

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Section: Discussionmentioning

confidence: 57%

Familial Williams-Beuren syndrome showing varying clinical expression

et al. 2001

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“…Up to 1993, WS was considered a singlegene autosomal dominant disorder. The disease was found to be concordant in 6 sets of monozygotic (MZ) twins [Page et al, 1965;Wiltse et al, 1966;Oorthuys et al, 1984;Murphy et al, 1990;Pankau et al, 1993] and discordant in two sets of dizygotic (DZ) twins [Crichton and Morgan, 1967;Neilson and Hossack, 1978]. Although WS is usually sporadic, vertical transmission has been demonstrated in a few cases Sadler et al, 1993].…”

Section: Introductionmentioning

confidence: 96%

Genotype-phenotype correlation in two sets of monozygotic twins with Williams syndrome

et al. 1997

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We report on two sets of monozygotic (MZ) twins with Williams syndrome (WS), following the 6 pairs already reported in the literature. We have confirmed monozygosity of both pairs of twins by DNA microsatellite analysis and the clinical diagnosis by fluorescence in situ hybridization using a WS-specific probe. Analysis of the concordance of different clinical signs between members of each pair of twins benefitted from a lengthy clinical follow-up, from 24 months to 7 years in one pair, and from the age of 15 years with reevaluation after 2 years in the other pair. Most clinical signs were concordant in the twins of each pair, with differences present at younger ages, mainly minor facial anomalies, being attenuated with time. Developmental delay was substantially concordant, but the degree differed slightly between twins in each pair. Inguinal hernia was present in a single twin in pair 1. Facial anomalies and other signs attributable to connective tissue abnormalities were also displayed by only one twin in both sets, suggesting that the WS genotype has only a predisposing role in the development of these signs.

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“…It also emphasised that Solarz had considered the possibility of direct American governmental investment in Northern Ireland. 82 In early 1979, Wolff told Irish Northern Aid supporters that he "would win control of the 'human rights' sub-committee," promising hearings on Northern Ireland shortly thereafter. 83 The NIO therefore considered that human rights in Northern Ireland might be the focus of those hearings.…”

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confidence: 99%

Congressional Hearings on Northern Ireland and the “Special Relationship,” 1971–1981

Sanders

2016

Diplomacy & Statecraft

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Supravalvular aortic stenosis in a twin.

Cited by 9 publications

References 12 publications

Familial Williams-Beuren syndrome showing varying clinical expression

Familial Williams-Beuren syndrome showing varying clinical expression

Genotype-phenotype correlation in two sets of monozygotic twins with Williams syndrome

Congressional Hearings on Northern Ireland and the “Special Relationship,” 1971–1981

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