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Private Multiple Congenital Anomaly Syndromes May Result from Unbalanced Subtle Translocations: T(2q;4p) Explains the Lambotte Syndrome
Herens, Christian; Jamar, Mauricette; Alvarez Gonzalez, Maria-Luz et al.
1997In American Journal of Medical Genetics, 73 (2), p. 127-31
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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.
Disciplines :
Genetics & genetic processes
Author, co-author :
Herens, Christian ;  Centre Hospitalier Universitaire de Liège - CHU > PLAN COS
Jamar, Mauricette ;  Université de Liège - ULiège > Génétique
Alvarez Gonzalez, Maria-Luz ;  Université de Liège - ULiège > Département des sciences cliniques > Labo de biologie des tumeurs et du développement
Lesenfants, S.
Lombet, Jacques ;  Université de Liège - ULiège > Département des sciences cliniques > Pédiatrie
Bonnivert, Jacques ;  Centre Hospitalier Universitaire de Liège - CHU > HOSPITALISATION - CHIR. CARDIAQUE (SN +1A)
Koulischer, Lucien ;  Université de Liège - ULiège > Relations académiques et scientifiques (Médecine)
Verloes, Alain ;  Université de Liège - ULiège > Génétique générale et humaine
Language :
English
Title :
Private Multiple Congenital Anomaly Syndromes May Result from Unbalanced Subtle Translocations: T(2q;4p) Explains the Lambotte Syndrome
Publication date :
12 December 1997
Journal title :
American Journal of Medical Genetics
ISSN :
0148-7299
Publisher :
Wiley-Liss Inc, United States - New Jersey
Volume :
73
Issue :
2
Pages :
127-31
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 25 September 2009

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