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Familial Williams-Beuren syndrome showing varying clinical expression

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Familial Williams-Beuren syndrome showing varying clinical expression. / Pankau, R; Siebert, R; Kautza, M; Schneppenheim, R; Gosch, A; Wessel, A; Partsch, C J.

in: Am J Med Genet, Jahrgang 98, Nr. 4, 01.02.2001, S. 324-9.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Pankau, R, Siebert, R, Kautza, M, Schneppenheim, R, Gosch, A, Wessel, A & Partsch, CJ 2001, 'Familial Williams-Beuren syndrome showing varying clinical expression', Am J Med Genet, Jg. 98, Nr. 4, S. 324-9.

APA

Pankau, R., Siebert, R., Kautza, M., Schneppenheim, R., Gosch, A., Wessel, A., & Partsch, C. J. (2001). Familial Williams-Beuren syndrome showing varying clinical expression. Am J Med Genet, 98(4), 324-9.

Vancouver

Pankau R, Siebert R, Kautza M, Schneppenheim R, Gosch A, Wessel A et al. Familial Williams-Beuren syndrome showing varying clinical expression. Am J Med Genet. 2001 Feb 1;98(4):324-9.

Bibtex

@article{d55561bdb07a4643b44a9f9330676826,
title = "Familial Williams-Beuren syndrome showing varying clinical expression",
abstract = "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.",
keywords = "Adolescent, Adult, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 7, Family Health, Female, Humans, Infant, Male, Williams Syndrome",
author = "R Pankau and R Siebert and M Kautza and R Schneppenheim and A Gosch and A Wessel and Partsch, {C J}",
note = "Copyright 2001 Wiley-Liss, Inc.",
year = "2001",
month = feb,
day = "1",
language = "English",
volume = "98",
pages = "324--9",
number = "4",

}

RIS

TY - JOUR

T1 - Familial Williams-Beuren syndrome showing varying clinical expression

AU - Pankau, R

AU - Siebert, R

AU - Kautza, M

AU - Schneppenheim, R

AU - Gosch, A

AU - Wessel, A

AU - Partsch, C J

N1 - Copyright 2001 Wiley-Liss, Inc.

PY - 2001/2/1

Y1 - 2001/2/1

N2 - 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.

AB - 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.

KW - Adolescent

KW - Adult

KW - Child

KW - Child, Preschool

KW - Chromosome Deletion

KW - Chromosomes, Human, Pair 7

KW - Family Health

KW - Female

KW - Humans

KW - Infant

KW - Male

KW - Williams Syndrome

M3 - SCORING: Journal article

C2 - 11170076

VL - 98

SP - 324

EP - 329

IS - 4

ER -