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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Autor*in
Happle, R;
Effendy, IsaakUniBi 
;
Megahed, M;
Orlow, SJ;
Küster, W
;
Megahed, M;
Orlow, SJ;
Küster, WAbstract / 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
62
Ausgabe
2
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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