CHILD syndrome in a boy

Happle, R; Effendy, Isaak; Megahed, M; Orlow, SJ; Küster, W

CHILD syndrome in a boy

Happle R, Effendy I, Megahed M, Orlow SJ, Küster W (1996)
American Journal of Medical Genetics 62(2): 192-194.

Zeitschriftenaufsatz | Veröffentlicht | Englisch

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DOI

https://doi.org/10.1002/(SICI)1096-8628(19960315)62:2<192::AID-AJMG14>3.0.CO;2-J

Autor*in

Happle, R; Effendy, Isaak^UniBi ; Megahed, M; Orlow, SJ; Küster, W

Einrichtung

Medizinische Fakultät OWL > Vertretungsprofessur für Dermatologie

Abstract / Bemerkung

CHILD syndrome (congenital hemidysplasia with ichthyosiform nevus and limb defects) occurs, as a rule, exclusively in girls because the underlying X-linked gene exerts a lethal effect on male embryos, In this report the characteristic manifestations of CHILD syndrome are described in a 2-year-old boy with a normal chromosome constitution 46,XY, This exceptional case is best explained by the assumption of an early somatic mutation and thus compatible with the concept of X-linked dominant male-lethal inheritance of this trait. (C) 1996 Wiley-Liss, Inc.

Stichworte

CHILD syndrome; X-linked dominant; male-lethal inheritance; lateralization pattern; lines of Blaschko; postzygotic mutation; gametic; half-chromatid mutation

Erscheinungsjahr

1996

Zeitschriftentitel

American Journal of Medical Genetics

Band

Ausgabe

Seite(n)

192-194

ISSN

0148-7299

Page URI

https://pub.uni-bielefeld.de/record/2968829

Zitieren

Happle R, Effendy I, Megahed M, Orlow SJ, Küster W. CHILD syndrome in a boy. American Journal of Medical Genetics . 1996;62(2):192-194.

Happle, R., Effendy, I., Megahed, M., Orlow, S. J., & Küster, W. (1996). CHILD syndrome in a boy. American Journal of Medical Genetics , 62(2), 192-194. https://doi.org/10.1002/(SICI)1096-8628(19960315)62:2<192::AID-AJMG14>3.0.CO;2-J

Happle, R, Effendy, Isaak, Megahed, M, Orlow, SJ, and Küster, W. 1996. “CHILD syndrome in a boy”. American Journal of Medical Genetics 62 (2): 192-194.

Happle, R., Effendy, I., Megahed, M., Orlow, S. J., and Küster, W. (1996). CHILD syndrome in a boy. American Journal of Medical Genetics 62, 192-194.

Happle, R., et al., 1996. CHILD syndrome in a boy. American Journal of Medical Genetics , 62(2), p 192-194.

R. Happle, et al., “CHILD syndrome in a boy”, American Journal of Medical Genetics , vol. 62, 1996, pp. 192-194.

Happle, R., Effendy, I., Megahed, M., Orlow, S.J., Küster, W.: CHILD syndrome in a boy. American Journal of Medical Genetics . 62, 192-194 (1996).

Happle, R, Effendy, Isaak, Megahed, M, Orlow, SJ, and Küster, W. “CHILD syndrome in a boy”. American Journal of Medical Genetics 62.2 (1996): 192-194.

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