Reference : Private Multiple Congenital Anomaly Syndromes May Result from Unbalanced Subtle Trans...
Scientific journals : Article
Life sciences : Genetics & genetic processes
http://hdl.handle.net/2268/23876
Private Multiple Congenital Anomaly Syndromes May Result from Unbalanced Subtle Translocations: T(2q;4p) Explains the Lambotte Syndrome
English
Herens, Christian mailto [Centre Hospitalier Universitaire de Liège - CHU > > PLAN COS >]
Jamar, Mauricette mailto [Université de Liège - ULg > > Génétique >]
Alvarez Gonzalez, Maria-Luz mailto [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 >]
12-Dec-1997
American Journal of Medical Genetics
73
2
127-31
Yes (verified by ORBi)
International
0148-7299
[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.
http://hdl.handle.net/2268/23876

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