Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiency

Beckwith–Wiedemann syndrome (BWS) is an overgrowth condition with tumor proclivity linked to a genetic imbalance of a complex imprinted region in 11p15.5. A female child with features fitting in with the BWS diagnostic framework and an apparent loss of imprinting (LOI) of the IGF2 gene in 11p15.5 wa...

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Veröffentlicht in:	American journal of medical genetics. Part A 2007-12, Vol.143A (23), p.2796-2803
Hauptverfasser:	Lirussi, Frédéric, Jonard, Laurence, Gaston, Véronique, Sanlaville, Damien, Kooy, R. Frank, Winnepenninckx, Birgitta, Maher, Eamonn R., FitzPatrick, David R., Gicquel, Christine, Portnoï, Marie-France, Couderc, Rémy, Vazquez, Marie-Paule, Bahuau, Michel
Format:	Artikel
Sprache:	eng
Schlagworte:	aneuploidy Beckwith-Wiedemann syndrome Beckwith-Wiedemann Syndrome - genetics Biological and medical sciences Chromosome aberrations Chromosomes, Human, Pair 18 Female Haplotypes Humans In Situ Hybridization, Fluorescence Infant, Newborn macroglossia Macroglossia - genetics Male Medical genetics Medical sciences monosomy 18q23 Physical Chromosome Mapping
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