Reference : Private Multiple Congenital Anomaly Syndromes May Result from Unbalanced Subtle Transloc...

	Document type :	Scientific journals : Article
	Discipline(s) :	Life sciences : Genetics & genetic processes
	To cite this reference:	http://hdl.handle.net/2268/23876

Title :	Private Multiple Congenital Anomaly Syndromes May Result from Unbalanced Subtle Translocations: T(2q;4p) Explains the Lambotte Syndrome
Language :	English
Author, co-author :	Herens, Christian [Centre Hospitalier Universitaire de Liège - CHU > > PLAN COS >]
	Jamar, Mauricette [Université de Liège - ULg > > Génétique >]
	Alvarez Gonzalez, Maria-Luz [Université de Liège - ULg > Département des sciences cliniques > Labo de biologie des tumeurs et du développement >]
	Lesenfants, S. [> > > >]
	Lombet, Jacques [Université de Liège - ULg > Département des sciences cliniques > Pédiatrie >]
	Bonnivert, Jacques [Centre Hospitalier Universitaire de Liège - CHU > > HOSPITALISATION - CHIR. CARDIAQUE (SN +1A) >]
	Koulischer, Lucien [Université de Liège - ULg > > Relations académiques et scientifiques (Médecine) >]
	Verloes, Alain [Université de Liège - ULg > > Génétique générale et humaine >]
Publication date :	12-Dec-1997
Journal title :	American Journal of Medical Genetics
Volume :	73
Issue/season :	2
Pages :	127-31
Audience :	International
ISSN :	0148-7299
Abstract :	[en] In 1990, Lambotte syndrome was reported as an apparently autosomal recessive multiple congenital anomaly/mental retardation (MCA/MR) syndrome observed in 4 of 12 sibs from a probably consanguineous mating [Verloes et al., Am J Med Genet 1990; 37:119-123]. Major manifestations included intrauterine growth retardation (IUGR), microcephaly, large soft pinnae, hypertelorism, beaked nose, and extremely severe neurologic impairment, with holoprosencephaly in one instance. After the observation of a further affected child born of one unaffected sister, in situ hybridization analysis and chromosome painting techniques demonstrated a subtle t(2;4)(q37.1; p16.2) translocation in the mother, suggesting a combination of 2q/4p trisomy/monosomy in all of the affected children of the family. Many private sporadic or recurrent MCA/MR syndromes maybe due to similar symmetric translocations, undetectable by conventional banding techniques.
Permalink :	http://hdl.handle.net/2268/23876

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